A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224705



Internal ID22368054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241573469..241597645hg38UCSC Ensembl
Outerchr2:242512884..242537060hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg385709
hg195709
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5128n152
Supporting Variantsnssv14265625, nssv14265627, nssv14265626, nssv14265624, nssv14265623, nssv14265622
SamplesHG00512, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesBOK, THAP4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224705
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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