A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246665



Internal ID22376479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:74541963..74557008hg38UCSC Ensembl
Outerchr15:74834304..74849349hg19UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg382315
hg192315
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259631, nssv14259632, nssv14259628, nssv14259625, nssv14259630, nssv14259624, nssv14259629, nssv14259627, nssv14259626
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesARID3B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246665
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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