A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263316



Internal ID22120176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:2711969..2715044hg38UCSC Ensembl
Outerchr19:2711967..2715042hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg383076
hg193076
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213497
Supporting Variants
SamplesHG00512
Known GenesDIRAS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263316
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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