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dbVar

Database of genomic structural variation

nsv6299004

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:128,619

Description:nsv5446863 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: 566 SVs from 65 studies. See in: genome view

Remapped(Score: Perfect):101,403,000-101,531,618

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6299004	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	101,403,000	101,531,618
nsv6299004	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	102,019,462	102,148,080

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17961373	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17961373	Remapped	Perfect	NC_000002.12:g.101 403000_101531618du p	GRCh38.p12	First Pass	NC_000002.12	Chr2	101,403,000	101,531,618
nssv17961373	Submitted genomic		NC_000002.11:g.102 019462_102148080du p	GRCh37 (hg19)		NC_000002.11	Chr2	102,019,462	102,148,080

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)
nssv17961373	0.564	3611	6404

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