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dbVar

Database of genomic structural variation

nsv6632180

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:429,724

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: 2260 SVs from 111 studies. See in: genome view

Remapped(Score: Perfect):76,502,329-76,932,052

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6632180	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	76,502,329	76,932,052
nsv6632180	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	76,131,646	76,561,369

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv18282073	duplication	OSC0221	SNP array	Probe signal intensity	5
nssv18284482	deletion	OSC2578	SNP array	Probe signal intensity	10
nssv18289959	duplication	OSC3382	SNP array	Probe signal intensity	nssv18289958, nssv18289957
nssv18294306	duplication	OSC4293	SNP array	Probe signal intensity	5
nssv18296960	duplication	OSC0502	SNP array	Probe signal intensity	nssv18297289, nssv18296954, nssv18297281
nssv18297682	duplication	OSC4916	SNP array	Probe signal intensity	5
nssv18323389	deletion	OSC1464	SNP array	Probe signal intensity	14
nssv18324567	deletion	OSC1645	SNP array	Probe signal intensity	nssv18323631, nssv18324280, nssv18324281

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18282073	Remapped	Perfect	NC_000007.14:g.(?_ 76502329)_(7693205 2_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	76,502,329	76,932,052
nssv18284482	Remapped	Perfect	NC_000007.14:g.(?_ 76502329)_(7693205 2_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	76,502,329	76,932,052
nssv18289959	Remapped	Perfect	NC_000007.14:g.(?_ 76502329)_(7693205 2_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	76,502,329	76,932,052
nssv18294306	Remapped	Perfect	NC_000007.14:g.(?_ 76502329)_(7693205 2_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	76,502,329	76,932,052
nssv18296960	Remapped	Perfect	NC_000007.14:g.(?_ 76502329)_(7693205 2_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	76,502,329	76,932,052
nssv18297682	Remapped	Perfect	NC_000007.14:g.(?_ 76502329)_(7693205 2_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	76,502,329	76,932,052
nssv18323389	Remapped	Perfect	NC_000007.14:g.(?_ 76502329)_(7693205 2_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	76,502,329	76,932,052
nssv18324567	Remapped	Perfect	NC_000007.14:g.(?_ 76502329)_(7693205 2_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	76,502,329	76,932,052
nssv18282073	Submitted genomic		NC_000007.13:g.(?_ 76131646)_(7656136 9_?)dup	GRCh37 (hg19)		NC_000007.13	Chr7	76,131,646	76,561,369
nssv18284482	Submitted genomic		NC_000007.13:g.(?_ 76131646)_(7656136 9_?)del	GRCh37 (hg19)		NC_000007.13	Chr7	76,131,646	76,561,369
nssv18289959	Submitted genomic		NC_000007.13:g.(?_ 76131646)_(7656136 9_?)dup	GRCh37 (hg19)		NC_000007.13	Chr7	76,131,646	76,561,369
nssv18294306	Submitted genomic		NC_000007.13:g.(?_ 76131646)_(7656136 9_?)dup	GRCh37 (hg19)		NC_000007.13	Chr7	76,131,646	76,561,369
nssv18296960	Submitted genomic		NC_000007.13:g.(?_ 76131646)_(7656136 9_?)dup	GRCh37 (hg19)		NC_000007.13	Chr7	76,131,646	76,561,369
nssv18297682	Submitted genomic		NC_000007.13:g.(?_ 76131646)_(7656136 9_?)dup	GRCh37 (hg19)		NC_000007.13	Chr7	76,131,646	76,561,369
nssv18323389	Submitted genomic		NC_000007.13:g.(?_ 76131646)_(7656136 9_?)del	GRCh37 (hg19)		NC_000007.13	Chr7	76,131,646	76,561,369
nssv18324567	Submitted genomic		NC_000007.13:g.(?_ 76131646)_(7656136 9_?)del	GRCh37 (hg19)		NC_000007.13	Chr7	76,131,646	76,561,369

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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