A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224246



Internal ID22367734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:65502466..65538188hg38UCSC Ensembl
Outerchr2:65729600..65765322hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg382610
hg192610
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266152, nssv14266155, nssv14266157, nssv14266153, nssv14266154, nssv14266156
SamplesNA19238, HG00731, HG00732, NA19240, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224246
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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