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dbVar

Database of genomic structural variation

nsv3193315

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:71,617

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: 396 SVs from 42 studies. See in: genome view

Submitted genomic43,231,772-43,303,388

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Start	Stop
nsv3193315	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000017.11	Chr17	43,231,772	43,303,388

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14432016	complex substitution	HG00514	Optical mapping, Sequencing	Optical mapping, Sequence alignment, de novo and local sequence assembly	39,861
nssv14432017	complex substitution	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	Assembly	Sequence ID	Chr	Start	Stop
nssv14432016	Submitted genomic	GRCh38 (hg38)	NC_000017.11	Chr17	43,231,772	43,303,388
nssv14432017	Submitted genomic	GRCh38 (hg38)	NC_000017.11	Chr17	43,231,772	43,303,388

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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