nsv6624783

Organism: Homo sapiens

Study:nstd224 (Zarrei et al. 2023)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37

Variant Calls:32
Validation:Not tested
Clinical Assertions: No
Region Size:20,467

Publication(s):Zarrei et al. 2023

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 568 SVs from 73 studies. See in: genome view

Remapped(Score: Perfect):53,018,847-53,039,313

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6624783	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	53,018,847	53,039,313
nsv6624783	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	53,522,100	53,542,566

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv18303074	deletion	OSC6005	SNP array	Probe signal intensity	7
nssv18303249	duplication	OSC5888	SNP array	Probe signal intensity	14
nssv18304367	duplication	OSC6274	SNP array	Probe signal intensity	7
nssv18304965	duplication	OSC6238	SNP array	Probe signal intensity	10
nssv18305127	duplication	OSC6341	SNP array	Probe signal intensity	10
nssv18305392	deletion	OSC6353	SNP array	Probe signal intensity	9
nssv18307434	deletion	OSC6669	SNP array	Probe signal intensity	10
nssv18308127	duplication	OSC6733	SNP array	Probe signal intensity	7
nssv18308303	duplication	OSC6856	SNP array	Probe signal intensity	11
nssv18308660	duplication	OSC6891	SNP array	Probe signal intensity	12
nssv18309089	duplication	OSC6998	SNP array	Probe signal intensity	10
nssv18309248	duplication	OSC7084	SNP array	Probe signal intensity	10
nssv18311729	duplication	OSC7465	SNP array	Probe signal intensity	9
nssv18317115	duplication	OSC8301	SNP array	Probe signal intensity	9
nssv18317153	duplication	OSC8317	SNP array	Probe signal intensity	8
nssv18317297	duplication	OSC8395	SNP array	Probe signal intensity	10
nssv18317450	duplication	OSC8477	SNP array	Probe signal intensity	9
nssv18317454	duplication	OSC8486	SNP array	Probe signal intensity	8
nssv18317924	duplication	OSC8554	SNP array	Probe signal intensity	8
nssv18317989	duplication	OSC8400	SNP array	Probe signal intensity	7
nssv18318075	duplication	OSC8473	SNP array	Probe signal intensity	7
nssv18318199	duplication	OSC8560	SNP array	Probe signal intensity	nssv18317557, nssv18318198, nssv18318467
nssv18318202	duplication	OSC8562	SNP array	Probe signal intensity	9
nssv18318683	duplication	OSC8692	SNP array	Probe signal intensity	10
nssv18318789	duplication	OSC8763	SNP array	Probe signal intensity	11
nssv18319015	duplication	OSC8673	SNP array	Probe signal intensity	14
nssv18319207	duplication	OSC8620	SNP array	Probe signal intensity	5
nssv18319384	duplication	OSC8743	SNP array	Probe signal intensity	15
nssv18319466	duplication	OSC8791	SNP array	Probe signal intensity	nssv18318838, nssv18318839, nssv18319465
nssv18319577	duplication	OSC8693	SNP array	Probe signal intensity	8
nssv18319637	duplication	OSC8724	SNP array	Probe signal intensity	14
nssv18319795	duplication	OSC8819	SNP array	Probe signal intensity	9

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18303074	Remapped	Perfect	NC_000019.10:g.(?_ 53018847)_(5303931 3_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,018,847	53,039,313
nssv18303249	Remapped	Perfect	NC_000019.10:g.(?_ 53018847)_(5303931 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,018,847	53,039,313
nssv18304367	Remapped	Perfect	NC_000019.10:g.(?_ 53018847)_(5303931 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,018,847	53,039,313
nssv18304965	Remapped	Perfect	NC_000019.10:g.(?_ 53018847)_(5303931 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,018,847	53,039,313
nssv18305127	Remapped	Perfect	NC_000019.10:g.(?_ 53018847)_(5303931 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,018,847	53,039,313
nssv18305392	Remapped	Perfect	NC_000019.10:g.(?_ 53018847)_(5303931 3_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,018,847	53,039,313
nssv18307434	Remapped	Perfect	NC_000019.10:g.(?_ 53018847)_(5303931 3_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,018,847	53,039,313
nssv18308127	Remapped	Perfect	NC_000019.10:g.(?_ 53018847)_(5303931 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,018,847	53,039,313
nssv18308303	Remapped	Perfect	NC_000019.10:g.(?_ 53018847)_(5303931 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,018,847	53,039,313
nssv18308660	Remapped	Perfect	NC_000019.10:g.(?_ 53018847)_(5303931 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,018,847	53,039,313
nssv18309089	Remapped	Perfect	NC_000019.10:g.(?_ 53018847)_(5303931 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,018,847	53,039,313
nssv18309248	Remapped	Perfect	NC_000019.10:g.(?_ 53018847)_(5303931 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,018,847	53,039,313
nssv18311729	Remapped	Perfect	NC_000019.10:g.(?_ 53018847)_(5303931 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,018,847	53,039,313
nssv18317115	Remapped	Perfect	NC_000019.10:g.(?_ 53018847)_(5303931 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,018,847	53,039,313
nssv18317153	Remapped	Perfect	NC_000019.10:g.(?_ 53018847)_(5303931 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,018,847	53,039,313
nssv18317297	Remapped	Perfect	NC_000019.10:g.(?_ 53018847)_(5303931 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,018,847	53,039,313
nssv18317450	Remapped	Perfect	NC_000019.10:g.(?_ 53018847)_(5303931 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,018,847	53,039,313
nssv18317454	Remapped	Perfect	NC_000019.10:g.(?_ 53018847)_(5303931 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,018,847	53,039,313
nssv18317924	Remapped	Perfect	NC_000019.10:g.(?_ 53018847)_(5303931 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,018,847	53,039,313
nssv18317989	Remapped	Perfect	NC_000019.10:g.(?_ 53018847)_(5303931 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,018,847	53,039,313
nssv18318075	Remapped	Perfect	NC_000019.10:g.(?_ 53018847)_(5303931 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,018,847	53,039,313
nssv18318199	Remapped	Perfect	NC_000019.10:g.(?_ 53018847)_(5303931 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,018,847	53,039,313
nssv18318202	Remapped	Perfect	NC_000019.10:g.(?_ 53018847)_(5303931 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,018,847	53,039,313
nssv18318683	Remapped	Perfect	NC_000019.10:g.(?_ 53018847)_(5303931 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,018,847	53,039,313
nssv18318789	Remapped	Perfect	NC_000019.10:g.(?_ 53018847)_(5303931 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,018,847	53,039,313
nssv18319015	Remapped	Perfect	NC_000019.10:g.(?_ 53018847)_(5303931 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,018,847	53,039,313
nssv18319207	Remapped	Perfect	NC_000019.10:g.(?_ 53018847)_(5303931 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,018,847	53,039,313
nssv18319384	Remapped	Perfect	NC_000019.10:g.(?_ 53018847)_(5303931 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,018,847	53,039,313
nssv18319466	Remapped	Perfect	NC_000019.10:g.(?_ 53018847)_(5303931 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,018,847	53,039,313
nssv18319577	Remapped	Perfect	NC_000019.10:g.(?_ 53018847)_(5303931 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,018,847	53,039,313
nssv18319637	Remapped	Perfect	NC_000019.10:g.(?_ 53018847)_(5303931 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,018,847	53,039,313
nssv18319795	Remapped	Perfect	NC_000019.10:g.(?_ 53018847)_(5303931 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,018,847	53,039,313
nssv18303074	Submitted genomic		NC_000019.9:g.(?_5 3522100)_(53542566 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	53,522,100	53,542,566
nssv18303249	Submitted genomic		NC_000019.9:g.(?_5 3522100)_(53542566 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,522,100	53,542,566
nssv18304367	Submitted genomic		NC_000019.9:g.(?_5 3522100)_(53542566 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,522,100	53,542,566
nssv18304965	Submitted genomic		NC_000019.9:g.(?_5 3522100)_(53542566 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,522,100	53,542,566
nssv18305127	Submitted genomic		NC_000019.9:g.(?_5 3522100)_(53542566 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,522,100	53,542,566
nssv18305392	Submitted genomic		NC_000019.9:g.(?_5 3522100)_(53542566 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	53,522,100	53,542,566
nssv18307434	Submitted genomic		NC_000019.9:g.(?_5 3522100)_(53542566 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	53,522,100	53,542,566
nssv18308127	Submitted genomic		NC_000019.9:g.(?_5 3522100)_(53542566 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,522,100	53,542,566
nssv18308303	Submitted genomic		NC_000019.9:g.(?_5 3522100)_(53542566 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,522,100	53,542,566
nssv18308660	Submitted genomic		NC_000019.9:g.(?_5 3522100)_(53542566 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,522,100	53,542,566
nssv18309089	Submitted genomic		NC_000019.9:g.(?_5 3522100)_(53542566 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,522,100	53,542,566
nssv18309248	Submitted genomic		NC_000019.9:g.(?_5 3522100)_(53542566 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,522,100	53,542,566
nssv18311729	Submitted genomic		NC_000019.9:g.(?_5 3522100)_(53542566 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,522,100	53,542,566
nssv18317115	Submitted genomic		NC_000019.9:g.(?_5 3522100)_(53542566 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,522,100	53,542,566
nssv18317153	Submitted genomic		NC_000019.9:g.(?_5 3522100)_(53542566 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,522,100	53,542,566
nssv18317297	Submitted genomic		NC_000019.9:g.(?_5 3522100)_(53542566 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,522,100	53,542,566
nssv18317450	Submitted genomic		NC_000019.9:g.(?_5 3522100)_(53542566 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,522,100	53,542,566
nssv18317454	Submitted genomic		NC_000019.9:g.(?_5 3522100)_(53542566 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,522,100	53,542,566
nssv18317924	Submitted genomic		NC_000019.9:g.(?_5 3522100)_(53542566 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,522,100	53,542,566
nssv18317989	Submitted genomic		NC_000019.9:g.(?_5 3522100)_(53542566 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,522,100	53,542,566
nssv18318075	Submitted genomic		NC_000019.9:g.(?_5 3522100)_(53542566 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,522,100	53,542,566
nssv18318199	Submitted genomic		NC_000019.9:g.(?_5 3522100)_(53542566 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,522,100	53,542,566
nssv18318202	Submitted genomic		NC_000019.9:g.(?_5 3522100)_(53542566 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,522,100	53,542,566
nssv18318683	Submitted genomic		NC_000019.9:g.(?_5 3522100)_(53542566 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,522,100	53,542,566
nssv18318789	Submitted genomic		NC_000019.9:g.(?_5 3522100)_(53542566 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,522,100	53,542,566
nssv18319015	Submitted genomic		NC_000019.9:g.(?_5 3522100)_(53542566 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,522,100	53,542,566
nssv18319207	Submitted genomic		NC_000019.9:g.(?_5 3522100)_(53542566 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,522,100	53,542,566
nssv18319384	Submitted genomic		NC_000019.9:g.(?_5 3522100)_(53542566 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,522,100	53,542,566
nssv18319466	Submitted genomic		NC_000019.9:g.(?_5 3522100)_(53542566 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,522,100	53,542,566
nssv18319577	Submitted genomic		NC_000019.9:g.(?_5 3522100)_(53542566 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,522,100	53,542,566
nssv18319637	Submitted genomic		NC_000019.9:g.(?_5 3522100)_(53542566 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,522,100	53,542,566
nssv18319795	Submitted genomic		NC_000019.9:g.(?_5 3522100)_(53542566 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,522,100	53,542,566

dbVar

Database of genomic structural variation

nsv6624783

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant