A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242707



Internal ID22375352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110475104..110488879hg38UCSC Ensembl
Outerchr13:111127451..111141226hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38812
hg19812
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258269, nssv14258268, nssv14258267, nssv14258265, nssv14258270, nssv14258266, nssv14258271
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513, HG00514
Known GenesCOL4A2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242707
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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