A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062448



Internal ID18804979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:5464900..5825417hg38UCSC Ensembl
Innerchr20:5445546..5806063hg19UCSC Ensembl
Innerchr20:5393546..5754063hg18UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38360518
hg19360518
hg18360518
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4242n100
Supporting Variantsnssv3734868
Samples
Known GenesC20orf196, GPCPD1, LINC00654, LOC643406
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062448
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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