A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1418855



Internal ID15582639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:63236102..63247598hg38UCSC Ensembl
Innerchr20:61867454..61878950hg19UCSC Ensembl
Innerchr20:61337899..61349395hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3811497
hg1911497
hg1811497
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv820146
Supporting Variants
SamplesAK1
Known GenesBIRC7, MIR3196, NKAIN4
MethodSNP array
AnalysisNormalized bead intensity data and genotype calls were obtained with Illumina BeadStudio 3.1 software. Copy number variants (CNVs) were detected on the basis of deflected log R ratios.
PlatformGPL6985
Comments
ReferenceKim_et_al_2009
Pubmed ID19587683
Accession Number(s)nssv1418855
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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