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dbVar

Database of genomic structural variation

nsv3209831

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:135,866

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: 320 SVs from 46 studies. See in: genome view

Submitted genomic80,945,501-81,081,366

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3209831	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	80,945,501	81,081,366
nsv3209831	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	81,172,625	81,308,490

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14406469	deletion	SAMN00001696	Optical mapping, Sequencing	Optical mapping, Sequence alignment, de novo and local sequence assembly	45,591

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14406469	Submitted genomic		NC_000002.12:g.809 45501_81081366del	GRCh38 (hg38)		NC_000002.12	Chr2	80,945,501	81,081,366
nssv14406469	Remapped	Perfect	NC_000002.11:g.811 72625_81308490del	GRCh37.p13	First Pass	NC_000002.11	Chr2	81,172,625	81,308,490

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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