A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279107



Internal ID22199137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:139951284..139964496hg38UCSC Ensembl
Outerchr8:140963579..140974621hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3813213
hg1911043
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217222
Supporting Variants
SamplesHG00732
Known GenesTRAPPC9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279107
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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