A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230546



Internal ID22371957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110247915..110260068hg38UCSC Ensembl
Outerchr13:110900262..110912415hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381096
hg191096
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257580, nssv14257583, nssv14257579, nssv14257584, nssv14257582, nssv14257581
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733
Known GenesCOL4A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230546
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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