A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059656



Internal ID18802187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14909985..15064766hg38UCSC Ensembl
Innerchr20:14890631..15045412hg19UCSC Ensembl
Innerchr20:14838631..14993412hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38154782
hg19154782
hg18154782
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4273n100
Supporting Variantsnssv3599607, nssv3599608
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)nsv1059656
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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