A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221805



Internal ID22366069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:239706439..239747646hg38UCSC Ensembl
Outerchr2:240628133..240669340hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38660
hg19660
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5092n152
Supporting Variantsnssv14266724, nssv14266720, nssv14266722, nssv14266721, nssv14266723
SamplesHG00512, NA19238, HG00731, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221805
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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