A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202936



Internal ID22352028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:42141496..42175028hg38UCSC Ensembl
Outerchr5:42141598..42175130hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3833533
hg1933533
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274879, nssv14274877, nssv14274876, nssv14274880, nssv14274881, nssv14274882, nssv14274878
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00513, HG00514
Known GenesLOC101926960
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202936
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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