A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065202



Internal ID18807733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14925880..14981623hg38UCSC Ensembl
Innerchr20:14906526..14962269hg19UCSC Ensembl
Innerchr20:14854526..14910269hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3855744
hg1955744
hg1855744
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4275n100
Supporting Variantsnssv3599611
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)nsv1065202
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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