A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063411



Internal ID19152630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14543758..14678224hg38UCSC Ensembl
Innerchr20:14524404..14658870hg19UCSC Ensembl
Innerchr20:14472404..14606870hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38134467
hg19134467
hg18134467
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4250n100
Supporting Variantsnssv3734883
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)nsv1063411
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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