A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242789



Internal ID22375384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:4699825..4725250hg38UCSC Ensembl
Outerchr9:4699825..4725250hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg381453
hg191453
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282264, nssv14282265, nssv14282270, nssv14282263, nssv14282268, nssv14282267, nssv14282262, nssv14282266, nssv14282269
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesAK3, CDC37L1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242789
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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