A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060833



Internal ID18803364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14821067..14912018hg38UCSC Ensembl
Innerchr20:14801713..14892664hg19UCSC Ensembl
Innerchr20:14749713..14840664hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3890952
hg1990952
hg1890952
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4268n100
Supporting Variantsnssv3599575, nssv3599574
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)nsv1060833
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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