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dbVar

Database of genomic structural variation

nsv6628365

Organism: Homo sapiens

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

Variant Calls:7
Validation:Not tested
Clinical Assertions: No
Region Size:749,468

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: 2665 SVs from 104 studies. See in: genome view

Remapped(Score: Pass):89,320,952-90,070,419

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6628365	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	89,320,952	90,070,419
nsv6628365	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	89,620,710	90,109,261

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv18282919	deletion	OSC2307	SNP array	Probe signal intensity	10
nssv18288979	deletion	OSC0349	SNP array	Probe signal intensity	5
nssv18289396	deletion	OSC0356	SNP array	Probe signal intensity	nssv18289397, nssv18289399, nssv18289404
nssv18289625	duplication	OSC0372	SNP array	Probe signal intensity	9
nssv18296477	deletion	OSC4703	SNP array	Probe signal intensity	9
nssv18299028	duplication	OSC0535	SNP array	Probe signal intensity	9
nssv18299487	duplication	OSC0525	SNP array	Probe signal intensity	nssv18298915, nssv18298559, nssv18298923

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18282919	Remapped	Pass	NC_000002.12:g.(?_ 89320952)_(9007041 9_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	89,320,952	90,070,419
nssv18288979	Remapped	Pass	NC_000002.12:g.(?_ 89320952)_(9007041 9_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	89,320,952	90,070,419
nssv18289396	Remapped	Pass	NC_000002.12:g.(?_ 89320952)_(9007041 9_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	89,320,952	90,070,419
nssv18289625	Remapped	Pass	NC_000002.12:g.(?_ 89320952)_(9007041 9_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	89,320,952	90,070,419
nssv18296477	Remapped	Pass	NC_000002.12:g.(?_ 89320952)_(9007041 9_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	89,320,952	90,070,419
nssv18299028	Remapped	Pass	NC_000002.12:g.(?_ 89320952)_(9007041 9_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	89,320,952	90,070,419
nssv18299487	Remapped	Pass	NC_000002.12:g.(?_ 89320952)_(9007041 9_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	89,320,952	90,070,419
nssv18282919	Submitted genomic		NC_000002.11:g.(?_ 89620710)_(9010926 1_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	89,620,710	90,109,261
nssv18288979	Submitted genomic		NC_000002.11:g.(?_ 89620710)_(9010926 1_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	89,620,710	90,109,261
nssv18289396	Submitted genomic		NC_000002.11:g.(?_ 89620710)_(9010926 1_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	89,620,710	90,109,261
nssv18289625	Submitted genomic		NC_000002.11:g.(?_ 89620710)_(9010926 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	89,620,710	90,109,261
nssv18296477	Submitted genomic		NC_000002.11:g.(?_ 89620710)_(9010926 1_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	89,620,710	90,109,261
nssv18299028	Submitted genomic		NC_000002.11:g.(?_ 89620710)_(9010926 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	89,620,710	90,109,261
nssv18299487	Submitted genomic		NC_000002.11:g.(?_ 89620710)_(9010926 1_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	89,620,710	90,109,261

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

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