A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240744



Internal ID22374779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:136796425..136815735hg38UCSC Ensembl
Outerchr9:139690877..139710187hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg381465
hg191465
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280735, nssv14280734, nssv14280731, nssv14280733, nssv14280732
SamplesNA19238, HG00731, HG00732, HG00513, HG00514
Known GenesCCDC183, CCDC183-AS1, RABL6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240744
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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