A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055633



Internal ID19144852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:64242894..64284703hg38UCSC Ensembl
Innerchr20:62874247..62916056hg19UCSC Ensembl
Innerchr20:62344691..62386500hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3841810
hg1941810
hg1841810
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3584515, nssv3584516
Samples
Known GenesPCMTD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055633
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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