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dbVar

Database of genomic structural variation

nsv5387272

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:95

Description:nsv4802626 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: 113 SVs from 38 studies. See in: genome view

Remapped(Score: Perfect):40,794,782-40,794,876

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5387272	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	40,794,782	40,794,876
nsv5387272	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	40,794,884	40,794,978

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16873365	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16873365	Remapped	Perfect	NC_000005.10:g.407 94782_40794876del	GRCh38.p12	First Pass	NC_000005.10	Chr5	40,794,782	40,794,876
nssv16873365	Submitted genomic		NC_000005.9:g.4079 4884_40794978del	GRCh37 (hg19)		NC_000005.9	Chr5	40,794,884	40,794,978

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)
nssv16873365	0.244	4114	16834

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