nstd141 - Rambo-Martin et al 2018 - dbVar Study

nstd141 (Rambo-Martin et al. 2018)

Organism:: Human
Study Type:: Case-Control
Submitter:: Benjamin Rambo-Martin
Description:: One in five people with Down syndrome (DS) are born with an atrioventricular septal defect (AVSD), an incidence 2,000 times higher than in the euploid population. We tested 198 case individuals with DS+AVSD and 211 control individuals with DS and a normal heart using a custom microarray with dense probes tiled on chromosome 21 for array CGH. See Variant Summary counts for nstd141 in dbVar Variant Summary.
Publication(s):: Rambo-Martin et al. 2018

Links

Source: NCBI

Detailed Information: Download 123 Variant Regions, Download 274 Variant Calls, Download Both, FTP

Variant Summary
Samplesets
Experimental Details
Validations

Variant Summary

Assembly used for analysis:
Remapped: GRCh38.p12 (hg38)
Submitted: GRCh37 (hg19)

Variant Summary for:

Sequence ID	Chr	Number of Variant Regions	Number of Variant Calls	Placement type	Link to graphical display
NC_000021.9	Chr21	123	274	Remapped	NC_000021.9
NW_003315968.2	Chr21\|NW_003315968.2	5	48	Remapped	NW_003315968.2

Sequence ID	Chr	Number of Variant Regions	Number of Variant Calls	Placement type	Link to graphical display
NC_000021.8	Chr21	123	274	Submitted	NC_000021.8

Remapping summary:

			Variant Region remap status						Variant Call remap status
Sequence ID	Chr	Variant Regions on source	Perfect	Good	Pass	Fail	Mult	Variant Calls on source	Perfect	Good	Pass	Fail	Mult
NC_000021.8	Chr21	123	104	14	0	0	5	274	211	15	0	0	48

Samplesets

Number of Samplesets: 8

Sampleset ID:: 1
Sampleset Type:: Case
Size:: 90
Organisms:: Homo sapiens
Sampleset Phenotype(s):: ATRIOVENTRICULAR SEPTAL DEFECT; AVSD
DOWN SYNDROME
Sex:: Male

Samples for sampleset 1
Sample ID	Cell Type	Subject ID	Sex	Ethnicity	Subject Phenotype
1	Lymphoblastic_cell_line	1	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
3	Lymphoblastic_cell_line	3	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
6	Lymphoblastic_cell_line	6	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
8	Lymphoblastic_cell_line	8	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
13	Lymphoblastic_cell_line	13	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
15	Lymphoblastic_cell_line	15	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
16	Lymphoblastic_cell_line	16	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
17	Lymphoblastic_cell_line	17	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
19	Lymphoblastic_cell_line	19	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
23	Lymphoblastic_cell_line	23	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
27	Lymphoblastic_cell_line	27	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
31	Lymphoblastic_cell_line	31	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
44	Lymphoblastic_cell_line	44	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
45	Lymphoblastic_cell_line	45	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
46	Lymphoblastic_cell_line	46	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
88	Lymphoblastic_cell_line	88	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
94	Lymphoblastic_cell_line	94	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
114	Lymphoblastic_cell_line	114	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
118	Lymphoblastic_cell_line	118	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
121	Lymphoblastic_cell_line	121	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
122	Lymphoblastic_cell_line	122	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
127	Lymphoblastic_cell_line	127	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
128	Lymphoblastic_cell_line	128	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
130	Lymphoblastic_cell_line	130	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
135	Lymphoblastic_cell_line	135	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
137	Lymphoblastic_cell_line	137	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
141	Lymphoblastic_cell_line	141	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
143	Lymphoblastic_cell_line	143	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
147	Lymphoblastic_cell_line	147	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
149	Lymphoblastic_cell_line	149	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
151	Lymphoblastic_cell_line	151	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
154	Lymphoblastic_cell_line	154	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
158	Lymphoblastic_cell_line	158	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
160	Lymphoblastic_cell_line	160	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
165	Lymphoblastic_cell_line	165	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
167	Lymphoblastic_cell_line	167	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
168	Lymphoblastic_cell_line	168	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
174	Lymphoblastic_cell_line	174	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
177	Lymphoblastic_cell_line	177	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
184	Lymphoblastic_cell_line	184	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
189	Lymphoblastic_cell_line	189	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
196	Lymphoblastic_cell_line	196	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
202	Lymphoblastic_cell_line	202	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
203	Lymphoblastic_cell_line	203	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
205	Lymphoblastic_cell_line	205	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
207	Lymphoblastic_cell_line	207	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
213	Lymphoblastic_cell_line	213	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
215	Lymphoblastic_cell_line	215	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
224	Lymphoblastic_cell_line	224	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
227	Lymphoblastic_cell_line	227	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
230	Lymphoblastic_cell_line	230	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
231	Lymphoblastic_cell_line	231	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
232	Lymphoblastic_cell_line	232	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
244	Lymphoblastic_cell_line	244	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
248	Lymphoblastic_cell_line	248	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
250	Lymphoblastic_cell_line	250	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
251	Lymphoblastic_cell_line	251	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
254	Lymphoblastic_cell_line	254	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
255	Lymphoblastic_cell_line	255	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
256	Lymphoblastic_cell_line	256	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
261	Lymphoblastic_cell_line	261	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
268	Lymphoblastic_cell_line	268	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
295	Lymphoblastic_cell_line	295	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
296	Lymphoblastic_cell_line	296	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
302	Lymphoblastic_cell_line	302	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
303	Lymphoblastic_cell_line	303	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
318	Lymphoblastic_cell_line	318	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
328	Lymphoblastic_cell_line	328	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
331	Lymphoblastic_cell_line	331	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
337	Lymphoblastic_cell_line	337	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
344	Lymphoblastic_cell_line	344	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
346	Lymphoblastic_cell_line	346	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
350	Lymphoblastic_cell_line	350	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
358	Lymphoblastic_cell_line	358	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
364	Lymphoblastic_cell_line	364	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
376	Lymphoblastic_cell_line	376	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
383	Lymphoblastic_cell_line	383	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
402	Lymphoblastic_cell_line	402	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
421	Lymphoblastic_cell_line	421	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
434	Lymphoblastic_cell_line	434	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
435	Lymphoblastic_cell_line	435	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
463	Lymphoblastic_cell_line	463	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
465	Lymphoblastic_cell_line	465	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
466	Lymphoblastic_cell_line	466	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
473	Lymphoblastic_cell_line	473	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
476	Lymphoblastic_cell_line	476	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
483	Lymphoblastic_cell_line	483	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
489	Lymphoblastic_cell_line	489	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
502	Lymphoblastic_cell_line	502	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
517	Lymphoblastic_cell_line	517	Male	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME

Sampleset ID:: 2
Sampleset Type:: Case
Size:: 116
Organisms:: Homo sapiens
Sampleset Phenotype(s):: ATRIOVENTRICULAR SEPTAL DEFECT; AVSD
DOWN SYNDROME
Sex:: Female

Samples for sampleset 2 (displaying 100 of the 116 samples)
Sample ID	Cell Type	Subject ID	Sex	Ethnicity	Subject Phenotype
2	Lymphoblastic_cell_line	2	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
4	Lymphoblastic_cell_line	4	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
10	Lymphoblastic_cell_line	10	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
11	Lymphoblastic_cell_line	11	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
12	Lymphoblastic_cell_line	12	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
14	Lymphoblastic_cell_line	14	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
18	Lymphoblastic_cell_line	18	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
20	Lymphoblastic_cell_line	20	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
21	Lymphoblastic_cell_line	21	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
22	Lymphoblastic_cell_line	22	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
24	Lymphoblastic_cell_line	24	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
25	Lymphoblastic_cell_line	25	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
26	Lymphoblastic_cell_line	26	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
28	Lymphoblastic_cell_line	28	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
29	Lymphoblastic_cell_line	29	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
37	Lymphoblastic_cell_line	37	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
39	Lymphoblastic_cell_line	39	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
47	Lymphoblastic_cell_line	47	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
108	Lymphoblastic_cell_line	108	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
115	Lymphoblastic_cell_line	115	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
116	Lymphoblastic_cell_line	116	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
125	Lymphoblastic_cell_line	125	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
129	Lymphoblastic_cell_line	129	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
131	Lymphoblastic_cell_line	131	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
132	Lymphoblastic_cell_line	132	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
136	Lymphoblastic_cell_line	136	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
138	Lymphoblastic_cell_line	138	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
139	Lymphoblastic_cell_line	139	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
140	Lymphoblastic_cell_line	140	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
146	Lymphoblastic_cell_line	146	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
148	Lymphoblastic_cell_line	148	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
155	Lymphoblastic_cell_line	155	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
161	Lymphoblastic_cell_line	161	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
162	Lymphoblastic_cell_line	162	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
164	Lymphoblastic_cell_line	164	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
170	Lymphoblastic_cell_line	170	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
171	Lymphoblastic_cell_line	171	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
172	Lymphoblastic_cell_line	172	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
175	Lymphoblastic_cell_line	175	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
194	Lymphoblastic_cell_line	194	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
195	Lymphoblastic_cell_line	195	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
198	Lymphoblastic_cell_line	198	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
199	Lymphoblastic_cell_line	199	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
204	Lymphoblastic_cell_line	204	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
208	Lymphoblastic_cell_line	208	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
217	Lymphoblastic_cell_line	217	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
218	Lymphoblastic_cell_line	218	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
219	Lymphoblastic_cell_line	219	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
220	Lymphoblastic_cell_line	220	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
221	Lymphoblastic_cell_line	221	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
223	Lymphoblastic_cell_line	223	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
225	Lymphoblastic_cell_line	225	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
226	Lymphoblastic_cell_line	226	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
233	Lymphoblastic_cell_line	233	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
234	Lymphoblastic_cell_line	234	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
239	Lymphoblastic_cell_line	239	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
247	Lymphoblastic_cell_line	247	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
249	Lymphoblastic_cell_line	249	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
252	Lymphoblastic_cell_line	252	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
253	Lymphoblastic_cell_line	253	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
257	Lymphoblastic_cell_line	257	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
258	Lymphoblastic_cell_line	258	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
259	Lymphoblastic_cell_line	259	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
260	Lymphoblastic_cell_line	260	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
263	Lymphoblastic_cell_line	263	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
264	Lymphoblastic_cell_line	264	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
269	Lymphoblastic_cell_line	269	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
270	Lymphoblastic_cell_line	270	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
271	Lymphoblastic_cell_line	271	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
272	Lymphoblastic_cell_line	272	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
273	Lymphoblastic_cell_line	273	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
274	Lymphoblastic_cell_line	274	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
280	Lymphoblastic_cell_line	280	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
307	Lymphoblastic_cell_line	307	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
308	Lymphoblastic_cell_line	308	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
321	Lymphoblastic_cell_line	321	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
324	Lymphoblastic_cell_line	324	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
333	Lymphoblastic_cell_line	333	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
343	Lymphoblastic_cell_line	343	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
345	Lymphoblastic_cell_line	345	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
361	Lymphoblastic_cell_line	361	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
362	Lymphoblastic_cell_line	362	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
368	Lymphoblastic_cell_line	368	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
370	Lymphoblastic_cell_line	370	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
380	Lymphoblastic_cell_line	380	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
389	Lymphoblastic_cell_line	389	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
392	Lymphoblastic_cell_line	392	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
393	Lymphoblastic_cell_line	393	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
396	Lymphoblastic_cell_line	396	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
397	Lymphoblastic_cell_line	397	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
401	Lymphoblastic_cell_line	401	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
408	Lymphoblastic_cell_line	408	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
432	Lymphoblastic_cell_line	432	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
433	Lymphoblastic_cell_line	433	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
436	Lymphoblastic_cell_line	436	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
442	Lymphoblastic_cell_line	442	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
450	Lymphoblastic_cell_line	450	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
461	Lymphoblastic_cell_line	461	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
470	Lymphoblastic_cell_line	470	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
474	Lymphoblastic_cell_line	474	Female	Caucasian	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME

Sampleset ID:: 3
Sampleset Type:: Control
Size:: 145
Organisms:: Homo sapiens
Sampleset Phenotype(s):: DOWN SYNDROME
Sex:: Male

Samples for sampleset 3 (displaying 100 of the 145 samples)
Sample ID	Cell Type	Subject ID	Sex	Ethnicity	Subject Phenotype
30	Lymphoblastic_cell_line	30	Male	Caucasian	DOWN SYNDROME
35	Lymphoblastic_cell_line	35	Male	Caucasian	DOWN SYNDROME
41	Lymphoblastic_cell_line	41	Male	Caucasian	DOWN SYNDROME
42	Lymphoblastic_cell_line	42	Male	Caucasian	DOWN SYNDROME
104	Lymphoblastic_cell_line	104	Male	Caucasian	DOWN SYNDROME
105	Lymphoblastic_cell_line	105	Male	Caucasian	DOWN SYNDROME
109	Lymphoblastic_cell_line	109	Male	Caucasian	DOWN SYNDROME
113	Lymphoblastic_cell_line	113	Male	Caucasian	DOWN SYNDROME
117	Lymphoblastic_cell_line	117	Male	Caucasian	DOWN SYNDROME
119	Lymphoblastic_cell_line	119	Male	Caucasian	DOWN SYNDROME
120	Lymphoblastic_cell_line	120	Male	Caucasian	DOWN SYNDROME
123	Lymphoblastic_cell_line	123	Male	Caucasian	DOWN SYNDROME
126	Lymphoblastic_cell_line	126	Male	Caucasian	DOWN SYNDROME
134	Lymphoblastic_cell_line	134	Male	Caucasian	DOWN SYNDROME
144	Lymphoblastic_cell_line	144	Male	Caucasian	DOWN SYNDROME
145	Lymphoblastic_cell_line	145	Male	Caucasian	DOWN SYNDROME
150	Lymphoblastic_cell_line	150	Male	Caucasian	DOWN SYNDROME
152	Lymphoblastic_cell_line	152	Male	Caucasian	DOWN SYNDROME
153	Lymphoblastic_cell_line	153	Male	Caucasian	DOWN SYNDROME
156	Lymphoblastic_cell_line	156	Male	Caucasian	DOWN SYNDROME
157	Lymphoblastic_cell_line	157	Male	Caucasian	DOWN SYNDROME
163	Lymphoblastic_cell_line	163	Male	Caucasian	DOWN SYNDROME
169	Lymphoblastic_cell_line	169	Male	Caucasian	DOWN SYNDROME
173	Lymphoblastic_cell_line	173	Male	Caucasian	DOWN SYNDROME
176	Lymphoblastic_cell_line	176	Male	Caucasian	DOWN SYNDROME
178	Lymphoblastic_cell_line	178	Male	Caucasian	DOWN SYNDROME
180	Lymphoblastic_cell_line	180	Male	Caucasian	DOWN SYNDROME
183	Lymphoblastic_cell_line	183	Male	Caucasian	DOWN SYNDROME
186	Lymphoblastic_cell_line	186	Male	Caucasian	DOWN SYNDROME
188	Lymphoblastic_cell_line	188	Male	Caucasian	DOWN SYNDROME
190	Lymphoblastic_cell_line	190	Male	Caucasian	DOWN SYNDROME
191	Lymphoblastic_cell_line	191	Male	Caucasian	DOWN SYNDROME
192	Lymphoblastic_cell_line	192	Male	Caucasian	DOWN SYNDROME
197	Lymphoblastic_cell_line	197	Male	Caucasian	DOWN SYNDROME
200	Lymphoblastic_cell_line	200	Male	Caucasian	DOWN SYNDROME
206	Lymphoblastic_cell_line	206	Male	Caucasian	DOWN SYNDROME
209	Lymphoblastic_cell_line	209	Male	Caucasian	DOWN SYNDROME
210	Lymphoblastic_cell_line	210	Male	Caucasian	DOWN SYNDROME
212	Lymphoblastic_cell_line	212	Male	Caucasian	DOWN SYNDROME
214	Lymphoblastic_cell_line	214	Male	Caucasian	DOWN SYNDROME
238	Lymphoblastic_cell_line	238	Male	Caucasian	DOWN SYNDROME
243	Lymphoblastic_cell_line	243	Male	Caucasian	DOWN SYNDROME
262	Lymphoblastic_cell_line	262	Male	Caucasian	DOWN SYNDROME
265	Lymphoblastic_cell_line	265	Male	Caucasian	DOWN SYNDROME
267	Lymphoblastic_cell_line	267	Male	Caucasian	DOWN SYNDROME
276	Lymphoblastic_cell_line	276	Male	Caucasian	DOWN SYNDROME
277	Lymphoblastic_cell_line	277	Male	Caucasian	DOWN SYNDROME
278	Lymphoblastic_cell_line	278	Male	Caucasian	DOWN SYNDROME
286	Lymphoblastic_cell_line	286	Male	Caucasian	DOWN SYNDROME
288	Lymphoblastic_cell_line	288	Male	Caucasian	DOWN SYNDROME
289	Lymphoblastic_cell_line	289	Male	Caucasian	DOWN SYNDROME
290	Lymphoblastic_cell_line	290	Male	Caucasian	DOWN SYNDROME
291	Lymphoblastic_cell_line	291	Male	Caucasian	DOWN SYNDROME
292	Lymphoblastic_cell_line	292	Male	Caucasian	DOWN SYNDROME
294	Lymphoblastic_cell_line	294	Male	Caucasian	DOWN SYNDROME
297	Lymphoblastic_cell_line	297	Male	Caucasian	DOWN SYNDROME
298	Lymphoblastic_cell_line	298	Male	Caucasian	DOWN SYNDROME
301	Lymphoblastic_cell_line	301	Male	Caucasian	DOWN SYNDROME
304	Lymphoblastic_cell_line	304	Male	Caucasian	DOWN SYNDROME
305	Lymphoblastic_cell_line	305	Male	Caucasian	DOWN SYNDROME
306	Lymphoblastic_cell_line	306	Male	Caucasian	DOWN SYNDROME
309	Lymphoblastic_cell_line	309	Male	Caucasian	DOWN SYNDROME
311	Lymphoblastic_cell_line	311	Male	Caucasian	DOWN SYNDROME
312	Lymphoblastic_cell_line	312	Male	Caucasian	DOWN SYNDROME
313	Lymphoblastic_cell_line	313	Male	Caucasian	DOWN SYNDROME
322	Lymphoblastic_cell_line	322	Male	Caucasian	DOWN SYNDROME
323	Lymphoblastic_cell_line	323	Male	Caucasian	DOWN SYNDROME
325	Lymphoblastic_cell_line	325	Male	Caucasian	DOWN SYNDROME
326	Lymphoblastic_cell_line	326	Male	Caucasian	DOWN SYNDROME
327	Lymphoblastic_cell_line	327	Male	Caucasian	DOWN SYNDROME
329	Lymphoblastic_cell_line	329	Male	Caucasian	DOWN SYNDROME
330	Lymphoblastic_cell_line	330	Male	Caucasian	DOWN SYNDROME
334	Lymphoblastic_cell_line	334	Male	Caucasian	DOWN SYNDROME
335	Lymphoblastic_cell_line	335	Male	Caucasian	DOWN SYNDROME
340	Lymphoblastic_cell_line	340	Male	Caucasian	DOWN SYNDROME
341	Lymphoblastic_cell_line	341	Male	Caucasian	DOWN SYNDROME
342	Lymphoblastic_cell_line	342	Male	Caucasian	DOWN SYNDROME
347	Lymphoblastic_cell_line	347	Male	Caucasian	DOWN SYNDROME
348	Lymphoblastic_cell_line	348	Male	Caucasian	DOWN SYNDROME
354	Lymphoblastic_cell_line	354	Male	Caucasian	DOWN SYNDROME
355	Lymphoblastic_cell_line	355	Male	Caucasian	DOWN SYNDROME
357	Lymphoblastic_cell_line	357	Male	Caucasian	DOWN SYNDROME
360	Lymphoblastic_cell_line	360	Male	Caucasian	DOWN SYNDROME
365	Lymphoblastic_cell_line	365	Male	Caucasian	DOWN SYNDROME
367	Lymphoblastic_cell_line	367	Male	Caucasian	DOWN SYNDROME
371	Lymphoblastic_cell_line	371	Male	Caucasian	DOWN SYNDROME
373	Lymphoblastic_cell_line	373	Male	Caucasian	DOWN SYNDROME
377	Lymphoblastic_cell_line	377	Male	Caucasian	DOWN SYNDROME
379	Lymphoblastic_cell_line	379	Male	Caucasian	DOWN SYNDROME
385	Lymphoblastic_cell_line	385	Male	Caucasian	DOWN SYNDROME
394	Lymphoblastic_cell_line	394	Male	Caucasian	DOWN SYNDROME
398	Lymphoblastic_cell_line	398	Male	Caucasian	DOWN SYNDROME
403	Lymphoblastic_cell_line	403	Male	Caucasian	DOWN SYNDROME
405	Lymphoblastic_cell_line	405	Male	Caucasian	DOWN SYNDROME
410	Lymphoblastic_cell_line	410	Male	Caucasian	DOWN SYNDROME
413	Lymphoblastic_cell_line	413	Male	Caucasian	DOWN SYNDROME
415	Lymphoblastic_cell_line	415	Male	Caucasian	DOWN SYNDROME
423	Lymphoblastic_cell_line	423	Male	Caucasian	DOWN SYNDROME
426	Lymphoblastic_cell_line	426	Male	Caucasian	DOWN SYNDROME
427	Lymphoblastic_cell_line	427	Male	Caucasian	DOWN SYNDROME

Sampleset ID:: 4
Sampleset Type:: Control
Size:: 99
Organisms:: Homo sapiens
Sampleset Phenotype(s):: DOWN SYNDROME
Sex:: Female

Samples for sampleset 4
Sample ID	Cell Type	Subject ID	Sex	Ethnicity	Subject Phenotype
32	Lymphoblastic_cell_line	32	Female	Caucasian	DOWN SYNDROME
33	Lymphoblastic_cell_line	33	Female	Caucasian	DOWN SYNDROME
34	Lymphoblastic_cell_line	34	Female	Caucasian	DOWN SYNDROME
36	Lymphoblastic_cell_line	36	Female	Caucasian	DOWN SYNDROME
53	Lymphoblastic_cell_line	53	Female	Caucasian	DOWN SYNDROME
55	Lymphoblastic_cell_line	55	Female	Caucasian	DOWN SYNDROME
75	Lymphoblastic_cell_line	75	Female	Caucasian	DOWN SYNDROME
80	Lymphoblastic_cell_line	80	Female	Caucasian	DOWN SYNDROME
81	Lymphoblastic_cell_line	81	Female	Caucasian	DOWN SYNDROME
83	Lymphoblastic_cell_line	83	Female	Caucasian	DOWN SYNDROME
87	Lymphoblastic_cell_line	87	Female	Caucasian	DOWN SYNDROME
89	Lymphoblastic_cell_line	89	Female	Caucasian	DOWN SYNDROME
90	Lymphoblastic_cell_line	90	Female	Caucasian	DOWN SYNDROME
91	Lymphoblastic_cell_line	91	Female	Caucasian	DOWN SYNDROME
97	Lymphoblastic_cell_line	97	Female	Caucasian	DOWN SYNDROME
100	Lymphoblastic_cell_line	100	Female	Caucasian	DOWN SYNDROME
102	Lymphoblastic_cell_line	102	Female	Caucasian	DOWN SYNDROME
103	Lymphoblastic_cell_line	103	Female	Caucasian	DOWN SYNDROME
106	Lymphoblastic_cell_line	106	Female	Caucasian	DOWN SYNDROME
112	Lymphoblastic_cell_line	112	Female	Caucasian	DOWN SYNDROME
124	Lymphoblastic_cell_line	124	Female	Caucasian	DOWN SYNDROME
133	Lymphoblastic_cell_line	133	Female	Caucasian	DOWN SYNDROME
142	Lymphoblastic_cell_line	142	Female	Caucasian	DOWN SYNDROME
159	Lymphoblastic_cell_line	159	Female	Caucasian	DOWN SYNDROME
166	Lymphoblastic_cell_line	166	Female	Caucasian	DOWN SYNDROME
181	Lymphoblastic_cell_line	181	Female	Caucasian	DOWN SYNDROME
182	Lymphoblastic_cell_line	182	Female	Caucasian	DOWN SYNDROME
185	Lymphoblastic_cell_line	185	Female	Caucasian	DOWN SYNDROME
187	Lymphoblastic_cell_line	187	Female	Caucasian	DOWN SYNDROME
193	Lymphoblastic_cell_line	193	Female	Caucasian	DOWN SYNDROME
201	Lymphoblastic_cell_line	201	Female	Caucasian	DOWN SYNDROME
211	Lymphoblastic_cell_line	211	Female	Caucasian	DOWN SYNDROME
237	Lymphoblastic_cell_line	237	Female	Caucasian	DOWN SYNDROME
245	Lymphoblastic_cell_line	245	Female	Caucasian	DOWN SYNDROME
246	Lymphoblastic_cell_line	246	Female	Caucasian	DOWN SYNDROME
266	Lymphoblastic_cell_line	266	Female	Caucasian	DOWN SYNDROME
284	Lymphoblastic_cell_line	284	Female	Caucasian	DOWN SYNDROME
285	Lymphoblastic_cell_line	285	Female	Caucasian	DOWN SYNDROME
287	Lymphoblastic_cell_line	287	Female	Caucasian	DOWN SYNDROME
293	Lymphoblastic_cell_line	293	Female	Caucasian	DOWN SYNDROME
299	Lymphoblastic_cell_line	299	Female	Caucasian	DOWN SYNDROME
310	Lymphoblastic_cell_line	310	Female	Caucasian	DOWN SYNDROME
314	Lymphoblastic_cell_line	314	Female	Caucasian	DOWN SYNDROME
315	Lymphoblastic_cell_line	315	Female	Caucasian	DOWN SYNDROME
316	Lymphoblastic_cell_line	316	Female	Caucasian	DOWN SYNDROME
317	Lymphoblastic_cell_line	317	Female	Caucasian	DOWN SYNDROME
319	Lymphoblastic_cell_line	319	Female	Caucasian	DOWN SYNDROME
332	Lymphoblastic_cell_line	332	Female	Caucasian	DOWN SYNDROME
336	Lymphoblastic_cell_line	336	Female	Caucasian	DOWN SYNDROME
338	Lymphoblastic_cell_line	338	Female	Caucasian	DOWN SYNDROME
339	Lymphoblastic_cell_line	339	Female	Caucasian	DOWN SYNDROME
349	Lymphoblastic_cell_line	349	Female	Caucasian	DOWN SYNDROME
352	Lymphoblastic_cell_line	352	Female	Caucasian	DOWN SYNDROME
353	Lymphoblastic_cell_line	353	Female	Caucasian	DOWN SYNDROME
356	Lymphoblastic_cell_line	356	Female	Caucasian	DOWN SYNDROME
363	Lymphoblastic_cell_line	363	Female	Caucasian	DOWN SYNDROME
366	Lymphoblastic_cell_line	366	Female	Caucasian	DOWN SYNDROME
369	Lymphoblastic_cell_line	369	Female	Caucasian	DOWN SYNDROME
372	Lymphoblastic_cell_line	372	Female	Caucasian	DOWN SYNDROME
374	Lymphoblastic_cell_line	374	Female	Caucasian	DOWN SYNDROME
378	Lymphoblastic_cell_line	378	Female	Caucasian	DOWN SYNDROME
381	Lymphoblastic_cell_line	381	Female	Caucasian	DOWN SYNDROME
382	Lymphoblastic_cell_line	382	Female	Caucasian	DOWN SYNDROME
384	Lymphoblastic_cell_line	384	Female	Caucasian	DOWN SYNDROME
387	Lymphoblastic_cell_line	387	Female	Caucasian	DOWN SYNDROME
388	Lymphoblastic_cell_line	388	Female	Caucasian	DOWN SYNDROME
390	Lymphoblastic_cell_line	390	Female	Caucasian	DOWN SYNDROME
391	Lymphoblastic_cell_line	391	Female	Caucasian	DOWN SYNDROME
395	Lymphoblastic_cell_line	395	Female	Caucasian	DOWN SYNDROME
399	Lymphoblastic_cell_line	399	Female	Caucasian	DOWN SYNDROME
400	Lymphoblastic_cell_line	400	Female	Caucasian	DOWN SYNDROME
404	Lymphoblastic_cell_line	404	Female	Caucasian	DOWN SYNDROME
407	Lymphoblastic_cell_line	407	Female	Caucasian	DOWN SYNDROME
409	Lymphoblastic_cell_line	409	Female	Caucasian	DOWN SYNDROME
411	Lymphoblastic_cell_line	411	Female	Caucasian	DOWN SYNDROME
412	Lymphoblastic_cell_line	412	Female	Caucasian	DOWN SYNDROME
414	Lymphoblastic_cell_line	414	Female	Caucasian	DOWN SYNDROME
416	Lymphoblastic_cell_line	416	Female	Caucasian	DOWN SYNDROME
419	Lymphoblastic_cell_line	419	Female	Caucasian	DOWN SYNDROME
420	Lymphoblastic_cell_line	420	Female	Caucasian	DOWN SYNDROME
422	Lymphoblastic_cell_line	422	Female	Caucasian	DOWN SYNDROME
425	Lymphoblastic_cell_line	425	Female	Caucasian	DOWN SYNDROME
428	Lymphoblastic_cell_line	428	Female	Caucasian	DOWN SYNDROME
431	Lymphoblastic_cell_line	431	Female	Caucasian	DOWN SYNDROME
437	Lymphoblastic_cell_line	437	Female	Caucasian	DOWN SYNDROME
440	Lymphoblastic_cell_line	440	Female	Caucasian	DOWN SYNDROME
447	Lymphoblastic_cell_line	447	Female	Caucasian	DOWN SYNDROME
448	Lymphoblastic_cell_line	448	Female	Caucasian	DOWN SYNDROME
451	Lymphoblastic_cell_line	451	Female	Caucasian	DOWN SYNDROME
469	Lymphoblastic_cell_line	469	Female	Caucasian	DOWN SYNDROME
486	Lymphoblastic_cell_line	486	Female	Caucasian	DOWN SYNDROME
491	Lymphoblastic_cell_line	491	Female	Caucasian	DOWN SYNDROME
496	Lymphoblastic_cell_line	496	Female	Caucasian	DOWN SYNDROME
508	Lymphoblastic_cell_line	508	Female	Caucasian	DOWN SYNDROME
511	Lymphoblastic_cell_line	511	Female	Caucasian	DOWN SYNDROME
513	Lymphoblastic_cell_line	513	Female	Caucasian	DOWN SYNDROME
515	Lymphoblastic_cell_line	515	Female	Caucasian	DOWN SYNDROME
519	Lymphoblastic_cell_line	519	Female	Caucasian	DOWN SYNDROME
524	Lymphoblastic_cell_line	524	Female	Caucasian	DOWN SYNDROME

Sampleset ID:: 5
Sampleset Type:: Case
Size:: 10
Organisms:: Homo sapiens
Sampleset Phenotype(s):: ATRIOVENTRICULAR SEPTAL DEFECT; AVSD
DOWN SYNDROME
Sex:: Male

Samples for sampleset 5
Sample ID	Cell Type	Subject ID	Sex	Ethnicity	Subject Phenotype
99	Lymphoblastic_cell_line	99	Male	African_American	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
107	Lymphoblastic_cell_line	107	Male	African_American	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
179	Lymphoblastic_cell_line	179	Male	African_American	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
228	Lymphoblastic_cell_line	228	Male	African_American	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
236	Lymphoblastic_cell_line	236	Male	African_American	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
240	Lymphoblastic_cell_line	240	Male	African_American	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
281	Lymphoblastic_cell_line	281	Male	African_American	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
418	Lymphoblastic_cell_line	418	Male	African_American	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
441	Lymphoblastic_cell_line	441	Male	African_American	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
497	Lymphoblastic_cell_line	497	Male	African_American	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME

Sampleset ID:: 6
Sampleset Type:: Case
Size:: 20
Organisms:: Homo sapiens
Sampleset Phenotype(s):: ATRIOVENTRICULAR SEPTAL DEFECT; AVSD
DOWN SYNDROME
Sex:: Female

Samples for sampleset 6
Sample ID	Cell Type	Subject ID	Sex	Ethnicity	Subject Phenotype
58	Lymphoblastic_cell_line	58	Female	African_American	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
76	Lymphoblastic_cell_line	76	Female	African_American	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
84	Lymphoblastic_cell_line	84	Female	African_American	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
110	Lymphoblastic_cell_line	110	Female	African_American	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
216	Lymphoblastic_cell_line	216	Female	African_American	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
222	Lymphoblastic_cell_line	222	Female	African_American	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
229	Lymphoblastic_cell_line	229	Female	African_American	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
235	Lymphoblastic_cell_line	235	Female	African_American	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
241	Lymphoblastic_cell_line	241	Female	African_American	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
242	Lymphoblastic_cell_line	242	Female	African_American	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
282	Lymphoblastic_cell_line	282	Female	African_American	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
443	Lymphoblastic_cell_line	443	Female	African_American	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
444	Lymphoblastic_cell_line	444	Female	African_American	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
452	Lymphoblastic_cell_line	452	Female	African_American	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
457	Lymphoblastic_cell_line	457	Female	African_American	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
460	Lymphoblastic_cell_line	460	Female	African_American	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
464	Lymphoblastic_cell_line	464	Female	African_American	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
485	Lymphoblastic_cell_line	485	Female	African_American	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
487	Lymphoblastic_cell_line	487	Female	African_American	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME
492	Lymphoblastic_cell_line	492	Female	African_American	ATRIOVENTRICULAR SEPTAL DEFECT; AVSD DOWN SYNDROME

Sampleset ID:: 7
Sampleset Type:: Control
Size:: 27
Organisms:: Homo sapiens
Sampleset Phenotype(s):: DOWN SYNDROME
Sex:: Male

Samples for sampleset 7
Sample ID	Cell Type	Subject ID	Sex	Ethnicity	Subject Phenotype
38	Lymphoblastic_cell_line	38	Male	African_American	DOWN SYNDROME
60	Lymphoblastic_cell_line	60	Male	African_American	DOWN SYNDROME
67	Lymphoblastic_cell_line	67	Male	African_American	DOWN SYNDROME
69	Lymphoblastic_cell_line	69	Male	African_American	DOWN SYNDROME
70	Lymphoblastic_cell_line	70	Male	African_American	DOWN SYNDROME
77	Lymphoblastic_cell_line	77	Male	African_American	DOWN SYNDROME
98	Lymphoblastic_cell_line	98	Male	African_American	DOWN SYNDROME
101	Lymphoblastic_cell_line	101	Male	African_American	DOWN SYNDROME
275	Lymphoblastic_cell_line	275	Male	African_American	DOWN SYNDROME
283	Lymphoblastic_cell_line	283	Male	African_American	DOWN SYNDROME
300	Lymphoblastic_cell_line	300	Male	African_American	DOWN SYNDROME
320	Lymphoblastic_cell_line	320	Male	African_American	DOWN SYNDROME
351	Lymphoblastic_cell_line	351	Male	African_American	DOWN SYNDROME
406	Lymphoblastic_cell_line	406	Male	African_American	DOWN SYNDROME
424	Lymphoblastic_cell_line	424	Male	African_American	DOWN SYNDROME
438	Lymphoblastic_cell_line	438	Male	African_American	DOWN SYNDROME
449	Lymphoblastic_cell_line	449	Male	African_American	DOWN SYNDROME
456	Lymphoblastic_cell_line	456	Male	African_American	DOWN SYNDROME
467	Lymphoblastic_cell_line	467	Male	African_American	DOWN SYNDROME
480	Lymphoblastic_cell_line	480	Male	African_American	DOWN SYNDROME
482	Lymphoblastic_cell_line	482	Male	African_American	DOWN SYNDROME
484	Lymphoblastic_cell_line	484	Male	African_American	DOWN SYNDROME
488	Lymphoblastic_cell_line	488	Male	African_American	DOWN SYNDROME
494	Lymphoblastic_cell_line	494	Male	African_American	DOWN SYNDROME
499	Lymphoblastic_cell_line	499	Male	African_American	DOWN SYNDROME
505	Lymphoblastic_cell_line	505	Male	African_American	DOWN SYNDROME
520	Lymphoblastic_cell_line	520	Male	African_American	DOWN SYNDROME

Sampleset ID:: 8
Sampleset Type:: Control
Size:: 19
Organisms:: Homo sapiens
Sampleset Phenotype(s):: DOWN SYNDROME
Sex:: Female

Samples for sampleset 8
Sample ID	Cell Type	Subject ID	Sex	Ethnicity	Subject Phenotype
40	Lymphoblastic_cell_line	40	Female	African_American	DOWN SYNDROME
43	Lymphoblastic_cell_line	43	Female	African_American	DOWN SYNDROME
51	Lymphoblastic_cell_line	51	Female	African_American	DOWN SYNDROME
61	Lymphoblastic_cell_line	61	Female	African_American	DOWN SYNDROME
68	Lymphoblastic_cell_line	68	Female	African_American	DOWN SYNDROME
82	Lymphoblastic_cell_line	82	Female	African_American	DOWN SYNDROME
111	Lymphoblastic_cell_line	111	Female	African_American	DOWN SYNDROME
279	Lymphoblastic_cell_line	279	Female	African_American	DOWN SYNDROME
359	Lymphoblastic_cell_line	359	Female	African_American	DOWN SYNDROME
375	Lymphoblastic_cell_line	375	Female	African_American	DOWN SYNDROME
386	Lymphoblastic_cell_line	386	Female	African_American	DOWN SYNDROME
417	Lymphoblastic_cell_line	417	Female	African_American	DOWN SYNDROME
439	Lymphoblastic_cell_line	439	Female	African_American	DOWN SYNDROME
453	Lymphoblastic_cell_line	453	Female	African_American	DOWN SYNDROME
468	Lymphoblastic_cell_line	468	Female	African_American	DOWN SYNDROME
471	Lymphoblastic_cell_line	471	Female	African_American	DOWN SYNDROME
472	Lymphoblastic_cell_line	472	Female	African_American	DOWN SYNDROME
495	Lymphoblastic_cell_line	495	Female	African_American	DOWN SYNDROME
500	Lymphoblastic_cell_line	500	Female	African_American	DOWN SYNDROME

Experimental Details

Experiment ID	Type	Method	Analysis	Platforms	Number of Variant Calls
1	Discovery	Oligo aCGH	Probe signal intensity	Agilent Sureselect 8x60k CGH array	274

dbVar

Database of genomic structural variation

nstd141 (Rambo-Martin et al. 2018)

Links

Detailed Information: Download 123 Variant Regions, Download 274 Variant Calls, Download Both, FTP

Variant Summary

Assembly used for analysis:
Remapped: GRCh38.p12 (hg38)
Submitted: GRCh37 (hg19)

Variant Summary for:

Remapping summary:

Samplesets

Number of Samplesets: 8

Experimental Details

Validations

No validation data were submitted for this study.

dbVar

Database of genomic structural variation

nstd141 (Rambo-Martin et al. 2018)

Links

Detailed Information: Download 123 Variant Regions, Download 274 Variant Calls, Download Both, FTP

Variant Summary

Variant Summary for: GRCh38.p12 (hg38)GRCh37 (hg19)

Remapping summary: GRCh37->GRCh38.p12

Samplesets

Number of Samplesets: 8

Experimental Details

Validations

No validation data were submitted for this study.

Variant Summary for:

Remapping summary: