A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213869



Internal ID22360678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:36659669..36660156hg38UCSC Ensembl
chr20:35288072..35288559hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38488
hg19488
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14300612, nssv14300613, nssv14300610, nssv14300611, nssv14300609, nssv14300608
SamplesHG00512, NA19239, HG00732, NA19240, HG00513, HG00514
Known GenesNDRG3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213869
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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