A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057120



Internal ID18799651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14856605..15186129hg38UCSC Ensembl
Innerchr20:14837251..15166775hg19UCSC Ensembl
Innerchr20:14785251..15114775hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38329525
hg19329525
hg18329525
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4270n100
Supporting Variantsnssv3599593
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)nsv1057120
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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