A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061303



Internal ID18803834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:13414899..13830344hg38UCSC Ensembl
Innerchr20:13395546..13810990hg19UCSC Ensembl
Innerchr20:13343546..13758990hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38415446
hg19415445
hg18415445
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3599403
Samples
Known GenesESF1, NDUFAF5, TASP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061303
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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