A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066070



Internal ID18808601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14647016..15199535hg38UCSC Ensembl
Innerchr20:14627662..15180181hg19UCSC Ensembl
Innerchr20:14575662..15128181hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38552520
hg19552520
hg18552520
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4251n100
Supporting Variantsnssv3734885
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)nsv1066070
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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