A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229404



Internal ID22371269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:23776407..23858057hg38UCSC Ensembl
chr20:23757044..23838694hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg3881651
hg1981651
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14297712, nssv14297709, nssv14297710, nssv14297711
SamplesHG00731, HG00733, HG00513, HG00514
Known GenesCST2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229404
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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