A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247090



Internal ID22376617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:62301317..62318559hg38UCSC Ensembl
Outerchr20:60876373..60893615hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg383595
hg193595
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266919, nssv14266917, nssv14266921, nssv14266920, nssv14266922, nssv14266915, nssv14266916, nssv14266918
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesADRM1, LAMA5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247090
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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