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dbVar

Database of genomic structural variation

nsv4639053

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:85,249

Description:esv3860275 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: 867 SVs from 54 studies. See in: genome view

Remapped(Score: Good):38,529,525-38,614,773

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4639053	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	38,529,525	38,614,773
nsv4639053	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	38,818,453	38,907,904

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16195418	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16195418	Remapped	Good	NC_000010.11:g.385 29525_38614773del	GRCh38.p12	First Pass	NC_000010.11	Chr10	38,529,525	38,614,773
nssv16195418	Submitted genomic		NC_000010.10:g.388 18453_38907904del	GRCh37 (hg19)		NC_000010.10	Chr10	38,818,453	38,907,904

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)
nssv16195418	0.027	136	5008

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