A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224917



Internal ID22368209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:159850752..159910430hg38UCSC Ensembl
Outerchr2:160707263..160766941hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38898
hg19898
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265591, nssv14265592, nssv14265594, nssv14265590, nssv14265593
SamplesHG00512, NA19238, HG00731, HG00732, HG00514
Known GenesLY75, LY75-CD302
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224917
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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