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dbVar

Database of genomic structural variation

nsv3190626

Organism: Homo sapiens

Study:nstd152 (Chaisson et al. 2019)
Variant Type:copy number variation
Method Type:Optical mapping
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	Outer Start	Outer Stop
nsv3190626	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	189,348,007	189,584,157
nsv3190626	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	Zygosity	Other Calls in this Sample and Study
nssv14256932	deletion	HG00514	Optical mapping	Optical mapping	Heterozygous	39,861

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv14256932	Submitted genomic		NC_000001.11:g.(18 9348007_?)_(?_1895 84157)del	GRCh38 (hg38)		NC_000001.11	Chr1	189,348,007	189,584,157
nssv14256932	Remapped	Perfect	NC_000001.10:g.(18 9317137_?)_(?_1895 53287)del	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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