A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3599403



Internal ID18897684
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 StatusS
Merged Variantsnsv1061303
Supporting Variants
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)nssv3599403
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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