A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058452



Internal ID19147671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14850979..14895454hg38UCSC Ensembl
Innerchr20:14831625..14876100hg19UCSC Ensembl
Innerchr20:14779625..14824100hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3844476
hg1944476
hg1844476
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3599591
Samples
Known GenesMACROD2, MACROD2-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058452
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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