A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562031



Internal ID22430797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:16498849..16498849hg38UCSC Ensembl
chr20:16479494..16479494hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14296862, nssv14296864, nssv14296863, nssv14296865
SamplesHG00512, HG00732, HG00513, HG00514
Known GenesKIF16B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3562031
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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