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dbVar

Database of genomic structural variation

nsv4643888

Organism: Homo sapiens

Study:nstd186 (NCBI Curated Common Structural Variants)
Variant Type:mobile element deletion
Method Type:Curated
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:350

Description:esv3881689 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: 214 SVs from 40 studies. See in: genome view

Remapped(Score: Perfect):46,802,747-46,803,096

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4643888	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	46,802,747	46,803,096
nsv4643888	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	44,382,710	44,383,059

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16189651	alu deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16189651	Remapped	Perfect	NC_000018.10:g.468 02747_46803096del	GRCh38.p12	First Pass	NC_000018.10	Chr18	46,802,747	46,803,096
nssv16189651	Submitted genomic		NC_000018.9:g.4438 2710_44383059del	GRCh37 (hg19)		NC_000018.9	Chr18	44,382,710	44,383,059

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)
nssv16189651	0.068	343	5008

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