Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv4636159

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:694

Description:esv3829385 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: 121 SVs from 41 studies. See in: genome view

Remapped(Score: Perfect):14,136,652-14,137,345

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4636159	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	14,136,652	14,137,345
nsv4636159	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	14,178,152	14,178,845

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16191040	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16191040	Remapped	Perfect	NC_000003.12:g.141 36652_14137345del	GRCh38.p12	First Pass	NC_000003.12	Chr3	14,136,652	14,137,345
nssv16191040	Submitted genomic		NC_000003.11:g.141 78152_14178845del	GRCh37 (hg19)		NC_000003.11	Chr3	14,178,152	14,178,845

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)
nssv16191040	0.099	496	5008

You are here: NCBI