A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061982



Internal ID18804513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:50111064..50483508hg38UCSC Ensembl
Innerchr20:48727601..49100045hg19UCSC Ensembl
Innerchr20:48161008..48533452hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38372445
hg19372445
hg18372445
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3586067
Samples
Known GenesCEBPB, LOC100506115, LOC284751, TMEM189, TMEM189-UBE2V1, UBE2V1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061982
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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