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dbVar

Database of genomic structural variation

nsv4656906

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:29,046

Description:esv3821789 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: 1293 SVs from 94 studies. See in: genome view

Remapped(Score: Perfect):196,766,765-196,795,810

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4656906	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	196,766,765	196,795,810
nsv4656906	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	196,735,895	196,764,940

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16201052	copy number loss	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16201052	Remapped	Perfect	NC_000001.11:g.196 766765_196795810de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	196,766,765	196,795,810
nssv16201052	Submitted genomic		NC_000001.10:g.196 735895_196764940de l	GRCh37 (hg19)		NC_000001.10	Chr1	196,735,895	196,764,940

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)
nssv16201052	0.261	1305	5008

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