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dbVar

Database of genomic structural variation

nsv6305666

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:155,470

Description:nsv5474938 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: 615 SVs from 51 studies. See in: genome view

Remapped(Score: Perfect):111,555,055-111,710,524

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6305666	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	111,555,055	111,710,524
nsv6305666	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	112,567,284	112,722,753

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17652126	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17652126	Remapped	Perfect	NC_000008.11:g.111 555055_111710524de l	GRCh38.p12	First Pass	NC_000008.11	Chr8	111,555,055	111,710,524
nssv17652126	Submitted genomic		NC_000008.10:g.112 567284_112722753de l	GRCh37 (hg19)		NC_000008.10	Chr8	112,567,284	112,722,753

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)
nssv17652126	0.014	90	6400

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