A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065316



Internal ID18807847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14739761..14994037hg38UCSC Ensembl
Innerchr20:14720407..14974683hg19UCSC Ensembl
Innerchr20:14668407..14922683hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38254277
hg19254277
hg18254277
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4261n100
Supporting Variantsnssv3599434
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)nsv1065316
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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