A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057465



Internal ID18799996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14881011..14960926hg38UCSC Ensembl
Innerchr20:14861657..14941572hg19UCSC Ensembl
Innerchr20:14809657..14889572hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3879916
hg1979916
hg1879916
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4272n100
Supporting Variantsnssv3599596, nssv3599597
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)nsv1057465
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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