A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055796



Internal ID18798327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14920183..15101100hg38UCSC Ensembl
Innerchr20:14900829..15081746hg19UCSC Ensembl
Innerchr20:14848829..15029746hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38180918
hg19180918
hg18180918
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4274n100
Supporting Variantsnssv3737159
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)nsv1055796
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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