A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064680



Internal ID18807211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14895232..14958962hg38UCSC Ensembl
Innerchr20:14875878..14939608hg19UCSC Ensembl
Innerchr20:14823878..14887608hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3863731
hg1963731
hg1863731
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4272n100
Supporting Variantsnssv3599604
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)nsv1064680
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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