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dbVar

Database of genomic structural variation

nsv4673451

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:69,179

Description:esv3845464 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: 2560 SVs from 97 studies. See in: genome view

Remapped(Score: Perfect):78,257,380-78,326,558

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4673451	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	78,257,380	78,326,558
nsv4673451	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	78,967,097	79,036,275

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16186386	copy number loss	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16186386	Remapped	Perfect	NC_000006.12:g.782 57380_78326558del	GRCh38.p12	First Pass	NC_000006.12	Chr6	78,257,380	78,326,558
nssv16186386	Submitted genomic		NC_000006.11:g.789 67097_79036275del	GRCh37 (hg19)		NC_000006.11	Chr6	78,967,097	79,036,275

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)
nssv16186386	0.145	728	5008

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