A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212110



Internal ID22359456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62547801..62552450hg38UCSC Ensembl
chr20:61145008..61149657hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg384650
hg194650
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14299720, nssv14299715, nssv14299716, nssv14299719, nssv14299718, nssv14299717, nssv14299713, nssv14299721, nssv14299714
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesC20orf166, C20orf166-AS1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212110
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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