A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3599408



Internal ID18897689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14562023..14705651hg38UCSC Ensembl
Innerchr20:14542669..14686297hg19UCSC Ensembl
Innerchr20:14490669..14634297hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38143629
hg19143629
hg18143629
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1064738
Supporting Variants
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)nssv3599408
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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