A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239203



Internal ID22374366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110349434..110387955hg38UCSC Ensembl
Outerchr13:111001781..111040302hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381195
hg191195
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258259, nssv14258258, nssv14258257, nssv14258260, nssv14258262, nssv14258263, nssv14258264, nssv14258256, nssv14258261
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCOL4A2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239203
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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