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dbVar

Database of genomic structural variation

nsv4644018

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:74,819

Description:esv3880712 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: 512 SVs from 49 studies. See in: genome view

Remapped(Score: Good):2,659,473-2,734,291

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4644018	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	2,659,473	2,734,291
nsv4644018	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	2,659,472	2,734,289

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16185372	copy number loss	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16185372	Remapped	Good	NC_000018.10:g.265 9473_2734291del	GRCh38.p12	First Pass	NC_000018.10	Chr18	2,659,473	2,734,291
nssv16185372	Submitted genomic		NC_000018.9:g.2659 472_2734289del	GRCh37 (hg19)		NC_000018.9	Chr18	2,659,472	2,734,289

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)
nssv16185372	0.039	193	5008

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