A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215782



Internal ID22361995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62048951..62053550hg38UCSC Ensembl
chr20:60624007..60628606hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg384600
hg194600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5359n152
Supporting Variantsnssv14299654, nssv14299650, nssv14299658, nssv14299655, nssv14299651, nssv14299653, nssv14299657, nssv14299656, nssv14299652
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesTAF4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215782
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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