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dbVar

Database of genomic structural variation

nsv5386619

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:101

Description:nsv4809376 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: 147 SVs from 35 studies. See in: genome view

Remapped(Score: Perfect):89,821,199-89,821,299

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5386619	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	89,821,199	89,821,299
nsv5386619	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	90,742,350	90,742,450

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16876842	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16876842	Remapped	Perfect	NC_000004.12:g.898 21199_89821299dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	89,821,199	89,821,299
nssv16876842	Submitted genomic		NC_000004.11:g.907 42350_90742450dup	GRCh37 (hg19)		NC_000004.11	Chr4	90,742,350	90,742,450

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)
nssv16876842	0.299	5034	16834

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