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dbVar

Database of genomic structural variation

nsv3206953

Organism: Homo sapiens

Study:nstd152 (Chaisson et al. 2019)
Variant Type:copy number variation
Method Type:Optical mapping, Sequencing
Submitted on:GRCh38 (hg38)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:236,151

Publication(s):Chaisson et al. 2019

Links to Other Resources

Overlapping Genes

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: 1385 SVs from 86 studies. See in: genome view

Submitted genomic189,348,007-189,584,157

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3206953	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	189,348,007	189,584,157
nsv3206953	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	189,317,137	189,553,287

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14433758	deletion	HG00514	Optical mapping, Sequencing	Optical mapping, Sequence alignment, de novo and local sequence assembly	39,861

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14433758	Submitted genomic		NC_000001.11:g.189 348007_189584157de l	GRCh38 (hg38)		NC_000001.11	Chr1	189,348,007	189,584,157
nssv14433758	Remapped	Perfect	NC_000001.10:g.189 317137_189553287de l	GRCh37.p13	First Pass	NC_000001.10	Chr1	189,317,137	189,553,287

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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