A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059009



Internal ID18801540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14786706..14943601hg38UCSC Ensembl
Innerchr20:14767352..14924247hg19UCSC Ensembl
Innerchr20:14715352..14872247hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38156896
hg19156896
hg18156896
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4264n100
Supporting Variantsnssv3599462
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)nsv1059009
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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