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dbVar

Database of genomic structural variation

nsv6303046

Organism: Homo sapiens

Study:nstd186 (NCBI Curated Common Structural Variants)
Variant Type:copy number variation
Method Type:Curated
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:224,921

Description:nsv5488718 from Byrska-Bishop et. al 2021. For a full list of variants now included in nstd186, refer to the mapping file provided here.

Links to Other Resources

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: 998 SVs from 96 studies. See in: genome view

Remapped(Score: Perfect):126,198,971-126,423,891

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6303046	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	126,198,971	126,423,891
nsv6303046	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	125,839,025	126,063,945

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17652641	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17652641	Remapped	Perfect	NC_000007.14:g.126 198971_126423891de l	GRCh38.p12	First Pass	NC_000007.14	Chr7	126,198,971	126,423,891
nssv17652641	Submitted genomic		NC_000007.13:g.125 839025_126063945de l	GRCh37 (hg19)		NC_000007.13	Chr7	125,839,025	126,063,945

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv17652641	0.067	420	6234

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