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dbVar

Database of genomic structural variation

nsv5386960

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:61

Description:nsv4802627 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 39 studies. See in: genome view

Remapped(Score: Perfect):40,794,512-40,794,572

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5386960	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	40,794,512	40,794,572
nsv5386960	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	40,794,614	40,794,674

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16883265	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16883265	Remapped	Perfect	NC_000005.10:g.407 94512_40794572del	GRCh38.p12	First Pass	NC_000005.10	Chr5	40,794,512	40,794,572
nssv16883265	Submitted genomic		NC_000005.9:g.4079 4614_40794674del	GRCh37 (hg19)		NC_000005.9	Chr5	40,794,614	40,794,674

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)
nssv16883265	0.327	5501	16834

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