A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061975



Internal ID18804506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:56580562..57136322hg38UCSC Ensembl
Innerchr20:55155618..55711378hg19UCSC Ensembl
Innerchr20:54589025..55144785hg18UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg38555761
hg19555761
hg18555761
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3731494
Samples
Known GenesTFAP2C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061975
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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