A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589948



Internal ID16030671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:23245650..23348730hg38UCSC Ensembl
Innerchr3:23287141..23390221hg19UCSC Ensembl
Innerchr3:23262145..23365225hg18UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38103081
hg19103081
hg18103081
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv960110
Samples
Known GenesMIR548AC, UBE2E2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589948
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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