A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14299717



Internal ID22203079
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212110
Supporting Variants
SamplesHG00732
Known GenesC20orf166, C20orf166-AS1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14299717
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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