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dbVar

Database of genomic structural variation

nsv5390196

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:676

Description:nsv4861591 from Abel et. al 2020. 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: 200 SVs from 39 studies. See in: genome view

Remapped(Score: Perfect):453,392-454,067

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5390196	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	453,392	454,067
nsv5390196	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	434,036	434,711

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16872997	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16872997	Remapped	Perfect	NC_000020.11:g.453 392_454067del	GRCh38.p12	First Pass	NC_000020.11	Chr20	453,392	454,067
nssv16872997	Submitted genomic		NC_000020.10:g.434 036_434711del	GRCh37 (hg19)		NC_000020.10	Chr20	434,036	434,711

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)
nssv16872997	0.077	1289	16834

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