A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063673



Internal ID18806204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:34977862..35009073hg38UCSC Ensembl
Innerchr20:33565665..33596876hg19UCSC Ensembl
Innerchr20:33029326..33060537hg18UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg3831212
hg1931212
hg1831212
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3584745
Samples
Known GenesMIR499A, MIR499B, MYH7B, TRPC4AP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063673
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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