A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv671230



Internal ID15061196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:63548764..63581575hg38UCSC Ensembl
Innerchr20:62180117..62212928hg19UCSC Ensembl
Innerchr20:61650561..61683372hg18UCSC Ensembl
Innerchr20:61650561..61683372hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3832812
hg1932812
hg1832812
hg1732812
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517702
Supporting Variants
Samples
Known GenesC20orf195, HELZ2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv671230
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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