A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265737



Internal ID22140322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:32364181..32381705hg38UCSC Ensembl
Outerchr2:32589249..32606773hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg382157
hg192157
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225181
Supporting Variants
SamplesHG00513
Known GenesBIRC6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265737
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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