A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211679



Internal ID22359160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:6434692..6457439hg38UCSC Ensembl
Outerchr5:6434805..6457552hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg381544
hg191544
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275163, nssv14275161, nssv14275652, nssv14275165, nssv14275167, nssv14275164, nssv14275166, nssv14275162, nssv14275653
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesUBE2QL1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211679
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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