A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055269



Internal ID18797800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14580246..14665555hg38UCSC Ensembl
Innerchr20:14560892..14646201hg19UCSC Ensembl
Innerchr20:14508892..14594201hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3885310
hg1985310
hg1885310
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3599409
Samples
Known GenesMACROD2, MACROD2-IT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055269
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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