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dbVar

Database of genomic structural variation

nsv4650575

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:62,201

Description:nsv4125027 from gnomAD Structural Variants. 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: 144 SVs from 26 studies. See in: genome view

Remapped(Score: Perfect):181,407,999-181,470,199

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4650575	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	181,407,999	181,470,199
nsv4650575	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	180,835,000	180,897,200

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16176526	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16176526	Remapped	Perfect	NC_000005.10:g.181 407999_181470199de l	GRCh38.p12	First Pass	NC_000005.10	Chr5	181,407,999	181,470,199
nssv16176526	Submitted genomic		NC_000005.9:g.1808 35000_180897200del	GRCh37 (hg19)		NC_000005.9	Chr5	180,835,000	180,897,200

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)
nssv16176526	0.12	2610	21694

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