A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061504



Internal ID19150723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14537718..14585075hg38UCSC Ensembl
Innerchr20:14518364..14565721hg19UCSC Ensembl
Innerchr20:14466364..14513721hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3847358
hg1947358
hg1847358
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3599406
Samples
Known GenesMACROD2, MACROD2-IT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061504
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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