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dbVar

Database of genomic structural variation

nsv4645337

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:71,056

Description:esv3874152 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: 309 SVs from 52 studies. See in: genome view

Remapped(Score: Perfect):100,995,014-101,066,069

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4645337	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	100,995,014	101,066,069
nsv4645337	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	101,461,351	101,532,406

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16188733	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16188733	Remapped	Perfect	NC_000014.9:g.1009 95014_101066069dup	GRCh38.p12	First Pass	NC_000014.9	Chr14	100,995,014	101,066,069
nssv16188733	Submitted genomic		NC_000014.8:g.1014 61351_101532406dup	GRCh37 (hg19)		NC_000014.8	Chr14	101,461,351	101,532,406

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)
nssv16188733	0.128	643	5008

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