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Variant Placements (including Supporting Variants) for nstd75 (displaying 100 of 3346 variants)
Study ID	Variant ID	Variant Region type	Variant Call type	Method	Analysis ID	Validation	Variant samples	Subject phenotype	Clinical Interpretation	Assembly	Accession	Chr	Inner-Start	Inner-End	Placement Type	Remap Score
nstd75	nssv1605311		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_1068	Developmental delay AND/OR other significant developmental or morphological phenotypes	Likely benign	GRCh38.p12	NC_000001.11	1	103216297	105100073	Remapped	0.94673
nstd75	nssv1605335		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_1090	Increased nuchal translucency	Benign	GRCh38.p12	NC_000001.11	1	143398568	144487230	Remapped	0.80918
nstd75	nssv1605348		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_1101	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	GRCh38.p12	NC_000002.12	2	88786469	91902847	Remapped	1.2044
nstd75	nssv1605354		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_1106	Developmental delay AND/OR other significant developmental or morphological phenotypes	Likely benign	GRCh38.p12	NC_000001.11	1	924989	1722739	Remapped	1.00497
nstd75	nssv1605359		copy number gain	Oligo aCGH	Probe signal intensity	Yes	ISCA_ID_pn_1111	Developmental delay AND/OR other significant developmental or morphological phenotypes	Uncertain significance	GRCh38.p12	NC_000001.11	1	107844606	119977656	Remapped	1
nstd75	nssv1605377		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_1127	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	GRCh38.p12	NC_000001.11	1	143509840	143737971	Remapped	0.77027
nstd75	nssv1605428		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_1173	Thickened nuchal skin fold	Benign	GRCh38.p12	NC_000001.11	1	143509840	143737971	Remapped	0.77027
nstd75	nssv1605473		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_1213	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	GRCh38.p12	NC_000001.11	1	143509840	143737971	Remapped	0.77027
nstd75	nssv1605507		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_1243	Ventricular septal defect	Uncertain significance	GRCh38.p12	NC_000001.11	1	145601946	146062451	Remapped	0.82247
nstd75	nssv1605575		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_1303	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	GRCh38.p12	NC_000001.11	1	143398568	144356501	Remapped	0.78865
nstd75	nssv1605682		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_1399	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	GRCh38.p12	NC_000001.11	1	143509840	143660525	Remapped	0.52351
nstd75	nssv1605689		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_1405	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	GRCh38.p12	NC_000001.11	1	143509840	143737971	Remapped	0.62455
nstd75	nssv1605778		copy number gain	Oligo aCGH	Probe signal intensity	Yes	ISCA_ID_pn_1485	Mild fetal ventriculomegaly	Pathogenic	GRCh38.p12	NC_000001.11	1	217898967	248914134	Remapped	0.99933
nstd75	nssv1605855		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_1554	Increased nuchal translucency	Benign	GRCh38.p12	NC_000001.11	1	143509840	143737971	Remapped	0.77027
nstd75	nssv1605879		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_1576	Increased nuchal translucency	Benign	GRCh38.p12	NC_000002.12	2	88833598	89997032	Remapped	1.53301
nstd75	nssv1605904		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_1598	Morphological abnormality of the central nervous system	Benign	GRCh38.p12	NC_000001.11	1	143509840	143737832	Remapped	0.62475
nstd75	nssv1605911		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_1604	Intrauterine growth retardation	Benign	GRCh38.p12	NC_000002.12	2	88833598	89245848	Remapped	1.00007
nstd75	nssv1605931		copy number gain	Oligo aCGH	Probe signal intensity	Yes	ISCA_ID_pn_1622	Developmental delay AND/OR other significant developmental or morphological phenotypes	Pathogenic	GRCh38.p12	NC_000001.11	1	145430980	148435812	Remapped	1.79044
nstd75	nssv1605954		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_1642	Developmental delay AND/OR other significant developmental or morphological phenotypes	Likely benign	GRCh38.p12	NC_000001.11	1	240909491	241842230	Remapped	1
nstd75	nssv1605985		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_1670	Mild fetal ventriculomegaly	Benign	GRCh38.p12	NC_000001.11	1	247612907	247930726	Remapped	1
nstd75	nssv1605998		copy number loss	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_1682	Developmental delay AND/OR other significant developmental or morphological phenotypes	Pathogenic	GRCh38.p12	NC_000001.11	1	145430980	148359038	Remapped	1.77031
nstd75	nssv1606024		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_1704	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	GRCh38.p12	NC_000002.12	2	30340	95070125	Remapped	0.99958
nstd75	nssv1606039		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_1717	Intrauterine growth retardation	Benign	GRCh38.p12	NC_000001.11	1	143509840	143737971	Remapped	0.77027
nstd75	nssv1606053		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_1729	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	GRCh38.p12	NC_000001.11	1	143509840	143737832	Remapped	0.62475
nstd75	nssv1606072		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_1746	Fetal megacystis	Pathogenic	GRCh38.p12	NC_000001.11	1	145430980	148435812	Remapped	1.79044
nstd75	nssv1606090		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_1763	Intrauterine growth retardation	Benign	GRCh38.p12	NC_000001.11	1	143509840	143737971	Remapped	0.62455
nstd75	nssv1606091		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_1764	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	GRCh38.p12	NC_000001.11	1	248265768	248609083	Remapped	1
nstd75	nssv1606130		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_1797	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	GRCh38.p12	NC_000001.11	1	143509840	143737971	Remapped	0.62455
nstd75	nssv1606226		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_19	Arthrogryposis multiplex congenita	Uncertain significance	GRCh38.p12	NC_000001.11	1	145601946	146062452	Remapped	0.71957
nstd75	nssv1606243		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_1898	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	GRCh38.p12	NC_000001.11	1	145642988	146062452	Remapped	0.99991
nstd75	nssv1606309		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_1958	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	GRCh38.p12	NC_000001.11	1	247682930	248093562	Remapped	1
nstd75	nssv1606382		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_2022	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	GRCh38.p12	NC_000001.11	1	143509840	143737971	Remapped	0.77027
nstd75	nssv1606407		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_2043	Increased nuchal translucency	Benign	GRCh38.p12	NC_000001.11	1	143509840	143737971	Remapped	0.77027
nstd75	nssv1606551		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_2167	Developmental delay AND/OR other significant developmental or morphological phenotypes	Likely benign	GRCh38.p12	NC_000001.11	1	117892118	119977655	Remapped	1
nstd75	nssv1606591		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_2203	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	GRCh38.p12	NC_000002.12	2	88833598	90156815	Remapped	1.44025
nstd75	nssv1606614		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_2224	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	GRCh38.p12	NC_000002.12	2	88833598	91603118	Remapped	1.23604
nstd75	nssv1606637		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_2245	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	GRCh38.p12	NC_000002.12	2	87148753	87706039	Remapped	1
nstd75	nssv1606696		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_2296	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	GRCh38.p12	NC_000001.11	1	143509840	143737832	Remapped	0.62475
nstd75	nssv1606713		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_2312	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	GRCh38.p12	NC_000001.11	1	143398568	144472388	Remapped	1.56227
nstd75	nssv1606782		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_24	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	GRCh38.p12	NC_000001.11	1	143509840	143737971	Remapped	0.62455
nstd75	nssv1606873		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_303	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	GRCh38.p12	NC_000001.11	1	143398568	144472388	Remapped	0.93029
nstd75	nssv1607004		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_421	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	GRCh38.p12	NC_000001.11	1	143509840	143737971	Remapped	0.62455
nstd75	nssv1607006		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_423	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	GRCh38.p12	NC_000001.11	1	143509840	143737971	Remapped	0.62455
nstd75	nssv1607024		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_439	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	GRCh38.p12	NC_000001.11	1	143509840	143737971	Remapped	0.77027
nstd75	nssv1607133		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_538	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	GRCh38.p12	NC_000002.12	2	88836526	89245848	Remapped	1.00007
nstd75	nssv1607223		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_62	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	GRCh38.p12	NC_000001.11	1	248176637	248521608	Remapped	1
nstd75	nssv1607256		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_65	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	GRCh38.p12	NC_000001.11	1	143509840	143737971	Remapped	0.77027
nstd75	nssv1607353		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_733	Increased nuchal translucency	Benign	GRCh38.p12	NC_000001.11	1	143509840	143737971	Remapped	0.77027
nstd75	nssv1607388		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_765	Increased nuchal translucency	Benign	GRCh38.p12	NC_000001.11	1	143398568	144442355	Remapped	0.87186
nstd75	nssv1607392		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_768	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	GRCh38.p12	NC_000002.12	2	88833598	90186425	Remapped	1.42651
nstd75	nssv1607398		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_774	Omphalocele	Benign	GRCh38.p12	NC_000001.11	1	143509840	143737832	Remapped	0.62475
nstd75	nssv1607414		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_788	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	GRCh38.p12	NC_000001.11	1	143509840	143737971	Remapped	0.62455
nstd75	nssv1607457		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_826	Developmental delay AND/OR other significant developmental or morphological phenotypes	Likely benign	GRCh38.p12	NC_000001.11	1	93712276	95111741	Remapped	1
nstd75	nssv1607515		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_879	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	GRCh38.p12	NC_000001.11	1	247682730	248093702	Remapped	1
nstd75	nssv1607546		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_906	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	GRCh38.p12	NC_000001.11	1	143398568	144487230	Remapped	0.87211
nstd75	nssv1607549		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_909	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	GRCh38.p12	NC_000002.12	2	88833598	91869572	Remapped	1.21095
nstd75	nssv1607568		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_926	Developmental delay AND/OR other significant developmental or morphological phenotypes	Pathogenic	GRCh38.p12	NC_000001.11	1	145601946	146944906	Remapped	0.72061
nstd75	nssv1607574		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_932	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	GRCh38.p12	NC_000002.12	2	88833598	89284138	Remapped	0.99946
nstd75	nssv1607583		copy number gain	Oligo aCGH	Probe signal intensity	No	ISCA_ID_pn_939	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	GRCh38.p12	NC_000001.11	1	247656672	248703931	Remapped	1
nstd75	nsv917459	copy number variation				No				GRCh38.p12	NC_000002.12	2	88786469	91902847	Remapped	1.2044
nstd75	nsv917461	copy number variation				No				GRCh38.p12	NC_000001.11	1	248265768	248609083	Remapped	1
nstd75	nsv917467	copy number variation				No				GRCh38.p12	NC_000001.11	1	143398568	144472388	Remapped	0.93029
nstd75	nsv917516	copy number variation				No				GRCh38.p12	NC_000002.12	2	88833598	90156815	Remapped	1.44025
nstd75	nsv917545	copy number variation				No				GRCh38.p12	NC_000001.11	1	247656672	248703931	Remapped	1
nstd75	nsv917561	copy number variation				Yes				GRCh38.p12	NC_000001.11	1	145430980	148435812	Remapped	1.79044
nstd75	nsv917620	copy number variation				No				GRCh38.p12	NC_000001.11	1	924989	1722739	Remapped	1.00497
nstd75	nsv917648	copy number variation				No				GRCh38.p12	NC_000001.11	1	143509840	143737971	Remapped	0.62455
nstd75	nsv917651	copy number variation				No				GRCh38.p12	NC_000001.11	1	143509840	143737971	Remapped	0.77027
nstd75	nsv917654	copy number variation				No				GRCh38.p12	NC_000002.12	2	88833598	90186425	Remapped	1.42651
nstd75	nsv917727	copy number variation				Yes				GRCh38.p12	NC_000001.11	1	217898967	248914134	Remapped	0.99933
nstd75	nsv917730	copy number variation				No				GRCh38.p12	NC_000001.11	1	248176637	248521608	Remapped	1
nstd75	nsv917736	copy number variation				No				GRCh38.p12	NC_000002.12	2	30340	95070125	Remapped	0.99958
nstd75	nsv917741	copy number variation				No				GRCh38.p12	NC_000001.11	1	103216297	105100073	Remapped	0.94673
nstd75	nsv917766	copy number variation				No				GRCh38.p12	NC_000001.11	1	145430980	148359038	Remapped	1.77031
nstd75	nsv917769	copy number variation				No				GRCh38.p12	NC_000001.11	1	143398568	144487230	Remapped	0.87211
nstd75	nsv917781	copy number variation				No				GRCh38.p12	NC_000002.12	2	88833598	89284138	Remapped	0.99946
nstd75	nsv917790	copy number variation				No				GRCh38.p12	NC_000002.12	2	88833598	91603118	Remapped	1.23604
nstd75	nsv917842	copy number variation				No				GRCh38.p12	NC_000002.12	2	88833598	91869572	Remapped	1.21095
nstd75	nsv917847	copy number variation				No				GRCh38.p12	NC_000001.11	1	145601946	146944906	Remapped	0.72061
nstd75	nsv917858	copy number variation				No				GRCh38.p12	NC_000001.11	1	93712276	95111741	Remapped	1
nstd75	nsv917888	copy number variation				No				GRCh38.p12	NC_000001.11	1	247682930	248093562	Remapped	1
nstd75	nsv917889	copy number variation				No				GRCh38.p12	NC_000001.11	1	143398568	144442355	Remapped	0.87186
nstd75	nsv917895	copy number variation				Yes				GRCh38.p12	NC_000001.11	1	107844606	119977656	Remapped	1
nstd75	nsv917908	copy number variation				No				GRCh38.p12	NC_000001.11	1	145601946	146062451	Remapped	0.82247
nstd75	nsv917937	copy number variation				No				GRCh38.p12	NC_000002.12	2	88833598	89245848	Remapped	1.00007
nstd75	nsv917940	copy number variation				No				GRCh38.p12	NC_000001.11	1	143398568	144356501	Remapped	0.78865
nstd75	nsv917999	copy number variation				No				GRCh38.p12	NC_000001.11	1	247682730	248093702	Remapped	1
nstd75	nsv918005	copy number variation				No				GRCh38.p12	NC_000002.12	2	88836526	89245848	Remapped	1.00007
nstd75	nsv918034	copy number variation				No				GRCh38.p12	NC_000001.11	1	240909491	241842230	Remapped	1
nstd75	nsv918111	copy number variation				No				GRCh38.p12	NC_000001.11	1	143509840	143737832	Remapped	0.62475
nstd75	nsv918131	copy number variation				No				GRCh38.p12	NC_000001.11	1	145601946	146062452	Remapped	0.71957
nstd75	nsv918154	copy number variation				No				GRCh38.p12	NC_000002.12	2	88833598	89997032	Remapped	1.53301
nstd75	nsv918182	copy number variation				No				GRCh38.p12	NC_000002.12	2	88836526	89293986	Remapped	0.99947
nstd75	nsv918188	copy number variation				No				GRCh38.p12	NC_000002.12	2	87148753	87706039	Remapped	1
nstd75	nsv918201	copy number variation				No				GRCh38.p12	NC_000001.11	1	247612907	247930726	Remapped	1
nstd75	nsv918206	copy number variation				No				GRCh38.p12	NC_000001.11	1	145642988	146062452	Remapped	0.99991
nstd75	nsv918249	copy number variation				No				GRCh38.p12	NC_000001.11	1	117892118	119977655	Remapped	1
nstd75	nsv918257	copy number variation				No				GRCh38.p12	NC_000001.11	1	143509840	143660525	Remapped	0.52351
nstd75	nsv918264	copy number variation				No				GRCh38.p12	NC_000001.11	1	143398568	144472388	Remapped	1.56227
nstd75	nsv918272	copy number variation				No				GRCh38.p12	NC_000001.11	1	143398568	144487230	Remapped	0.80918

dbVar

Database of genomic structural variation

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