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dbVar

Database of genomic structural variation

nsv4664094

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:123,193

Description:esv3866425 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: 405 SVs from 54 studies. See in: genome view

Remapped(Score: Good):9,762,802-9,885,994

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4664094	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	9,762,802	9,885,994
nsv4664094	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	9,915,398	10,038,593

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16192579	copy number variation	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16192579	Remapped	Good	GRCh38.p12	First Pass	NC_000012.12	Chr12	9,762,802	9,885,994
nssv16192579	Submitted genomic		GRCh37 (hg19)		NC_000012.11	Chr12	9,915,398	10,038,593

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)
nssv16192579	0.067	336	5008

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