A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060048



Internal ID18802579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14737550..14918584hg38UCSC Ensembl
Innerchr20:14718196..14899230hg19UCSC Ensembl
Innerchr20:14666196..14847230hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38181035
hg19181035
hg18181035
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4255n100
Supporting Variantsnssv3734888
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)nsv1060048
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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