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dbVar

Database of genomic structural variation

nsv5384134

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:4,939

Description:nsv4788990 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: 255 SVs from 56 studies. See in: genome view

Remapped(Score: Perfect):108,824,398-108,829,336

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5384134	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	108,824,398	108,829,336
nsv5384134	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	109,367,020	109,371,958

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16880080	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16880080	Remapped	Perfect	NC_000001.11:g.108 824398_108829336de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	108,824,398	108,829,336
nssv16880080	Submitted genomic		NC_000001.10:g.109 367020_109371958de l	GRCh37 (hg19)		NC_000001.10	Chr1	109,367,020	109,371,958

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)
nssv16880080	0.014	240	16834

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