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dbVar

Database of genomic structural variation

nsv4651092

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:3,813

Description:esv3876322 from 1000 Genomes Consortium Phase 3 Integrated SV. 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: 432 SVs from 59 studies. See in: genome view

Remapped(Score: Perfect):173,679-177,491

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4651092	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	173,679	177,491
nsv4651092	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	223,678	227,490

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16181544	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16181544	Remapped	Perfect	NC_000016.10:g.173 679_177491del	GRCh38.p12	First Pass	NC_000016.10	Chr16	173,679	177,491
nssv16181544	Submitted genomic		NC_000016.9:g.2236 78_227490del	GRCh37 (hg19)		NC_000016.9	Chr16	223,678	227,490

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)
nssv16181544	0.055	276	5008

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