A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247492



Internal ID22376732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:57098908..57138447hg38UCSC Ensembl
Outerchr17:55176269..55215808hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg381423
hg191423
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261653, nssv14261652, nssv14261654, nssv14261655
SamplesNA19239, HG00731, HG00732, NA19240
Known GenesAKAP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247492
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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