A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242645



Internal ID22375338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113342657..113373445hg38UCSC Ensembl
Outerchr13:113996972..114027760hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg384249
hg194249
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2490n152
Supporting Variantsnssv14257304, nssv14257306, nssv14257303, nssv14257305
SamplesNA19239, NA19240, HG00513, HG00514
Known GenesGRTP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242645
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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