A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196115



Internal ID22346183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:10249174..10283426hg38UCSC Ensembl
Outerchr5:10249286..10283538hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3834253
hg1934253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273287, nssv14273288, nssv14273285, nssv14273286, nssv14273289
SamplesNA19239, HG00731, HG00732, NA19240, HG00733
Known GenesCCT5, CMBL, FAM173B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196115
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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