A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064008



Internal ID18806539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14497249..14560045hg38UCSC Ensembl
Innerchr20:14477895..14540691hg19UCSC Ensembl
Innerchr20:14425895..14488691hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3862797
hg1962797
hg1862797
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3599405
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)nsv1064008
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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