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dbVar

Database of genomic structural variation

nsv6128826

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:360

Description:nsv5537610 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: 163 SVs from 33 studies. See in: genome view

Remapped(Score: Perfect):43,496,263-43,496,622

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6128826	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	43,496,263	43,496,622
nsv6128826	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	43,892,143	43,892,502

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17966560	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17966560	Remapped	Perfect	NC_000022.11:g.434 96263_43496622del	GRCh38.p12	First Pass	NC_000022.11	Chr22	43,496,263	43,496,622
nssv17966560	Submitted genomic		NC_000022.10:g.438 92143_43892502del	GRCh37 (hg19)		NC_000022.10	Chr22	43,892,143	43,892,502

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)
nssv17966560	0.468	2999	6404

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