A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216627



Internal ID22362564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:71585037..71641412hg38UCSC Ensembl
Outerchr2:71812167..71868542hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg381587
hg191587
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265320, nssv14265323, nssv14265318, nssv14265322, nssv14265315, nssv14265319, nssv14265316, nssv14265321, nssv14265317
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesDYSF
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216627
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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