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dbVar

Database of genomic structural variation

nsv6625778

Organism: Homo sapiens

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

Variant Calls:8
Validation:Not tested
Clinical Assertions: No
Region Size:43,609

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: 832 SVs from 80 studies. See in: genome view

Remapped(Score: Pass):1,636,948-1,680,556

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6625778	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	1,636,948	1,680,556
nsv6625778	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	1,572,310	1,611,995

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv18281697	duplication	OSC2094	SNP array	Probe signal intensity	5
nssv18285829	duplication	OSC2897	SNP array	Probe signal intensity	7
nssv18294443	deletion	OSC4388	SNP array	Probe signal intensity	7
nssv18294759	deletion	OSC4389	SNP array	Probe signal intensity	nssv18294760, nssv18294197
nssv18295793	deletion	OSC4475	SNP array	Probe signal intensity	nssv18295242, nssv18295483, nssv18295792
nssv18321021	deletion	OSC1101	SNP array	Probe signal intensity	6
nssv18322589	deletion	OSC1285	SNP array	Probe signal intensity	nssv18322590
nssv18324253	deletion	OSC1628	SNP array	Probe signal intensity	6

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18281697	Remapped	Pass	NC_000001.11:g.(?_ 1636948)_(1680556_ ?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	1,636,948	1,680,556
nssv18285829	Remapped	Pass	NC_000001.11:g.(?_ 1636948)_(1680556_ ?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	1,636,948	1,680,556
nssv18294443	Remapped	Pass	NC_000001.11:g.(?_ 1636948)_(1680556_ ?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	1,636,948	1,680,556
nssv18294759	Remapped	Pass	NC_000001.11:g.(?_ 1636948)_(1680556_ ?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	1,636,948	1,680,556
nssv18295793	Remapped	Pass	NC_000001.11:g.(?_ 1636948)_(1680556_ ?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	1,636,948	1,680,556
nssv18321021	Remapped	Pass	NC_000001.11:g.(?_ 1636948)_(1680556_ ?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	1,636,948	1,680,556
nssv18322589	Remapped	Pass	NC_000001.11:g.(?_ 1636948)_(1680556_ ?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	1,636,948	1,680,556
nssv18324253	Remapped	Pass	NC_000001.11:g.(?_ 1636948)_(1680556_ ?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	1,636,948	1,680,556
nssv18281697	Submitted genomic		NC_000001.10:g.(?_ 1572310)_(1611995_ ?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	1,572,310	1,611,995
nssv18285829	Submitted genomic		NC_000001.10:g.(?_ 1572310)_(1611995_ ?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	1,572,310	1,611,995
nssv18294443	Submitted genomic		NC_000001.10:g.(?_ 1572310)_(1611995_ ?)del	GRCh37 (hg19)		NC_000001.10	Chr1	1,572,310	1,611,995
nssv18294759	Submitted genomic		NC_000001.10:g.(?_ 1572310)_(1611995_ ?)del	GRCh37 (hg19)		NC_000001.10	Chr1	1,572,310	1,611,995
nssv18295793	Submitted genomic		NC_000001.10:g.(?_ 1572310)_(1611995_ ?)del	GRCh37 (hg19)		NC_000001.10	Chr1	1,572,310	1,611,995
nssv18321021	Submitted genomic		NC_000001.10:g.(?_ 1572310)_(1611995_ ?)del	GRCh37 (hg19)		NC_000001.10	Chr1	1,572,310	1,611,995
nssv18322589	Submitted genomic		NC_000001.10:g.(?_ 1572310)_(1611995_ ?)del	GRCh37 (hg19)		NC_000001.10	Chr1	1,572,310	1,611,995
nssv18324253	Submitted genomic		NC_000001.10:g.(?_ 1572310)_(1611995_ ?)del	GRCh37 (hg19)		NC_000001.10	Chr1	1,572,310	1,611,995

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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