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

dbVar

Database of genomic structural variation

nsv4643062

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:117,818

Description:esv3875848 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: 556 SVs from 66 studies. See in: genome view

Remapped(Score: Perfect):85,521,579-85,639,396

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4643062	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	85,521,579	85,639,396
nsv4643062	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	86,064,810	86,182,627

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16196796	copy number loss	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16196796	Remapped	Perfect	NC_000015.10:g.855 21579_85639396del	GRCh38.p12	First Pass	NC_000015.10	Chr15	85,521,579	85,639,396
nssv16196796	Submitted genomic		NC_000015.9:g.8606 4810_86182627del	GRCh37 (hg19)		NC_000015.9	Chr15	86,064,810	86,182,627

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)
nssv16196796	0.028	138	5008

You are here: NCBI