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dbVar

Database of genomic structural variation

nsv3219808

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:3,600

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: 125 SVs from 20 studies. See in: genome view

Submitted genomic40,089,101-40,092,700

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3219808	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	40,089,101	40,092,700
nsv3219808	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	38,245,354	38,248,953

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14431998	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
nssv14431998	Submitted genomic		NC_000017.11:g.400 89101_40092700del3 599	GRCh38 (hg38)		NC_000017.11	Chr17	40,089,101	40,092,700
nssv14431998	Remapped	Perfect	NC_000017.10:g.382 45354_38248953del3 599	GRCh37.p13	First Pass	NC_000017.10	Chr17	38,245,354	38,248,953

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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