A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217615



Internal ID22363216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:20827744..20827980hg38UCSC Ensembl
chr20:20808387..20808623hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5198n152
Supporting Variantsnssv14297607, nssv14297610, nssv14297611, nssv14297609, nssv14297608
SamplesHG00512, NA19239, HG00731, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217615
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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