A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589947



Internal ID16030670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:23236347..23362452hg38UCSC Ensembl
Innerchr3:23277838..23403943hg19UCSC Ensembl
Innerchr3:23252842..23378947hg18UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38126106
hg19126106
hg18126106
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv960109
Samples
Known GenesMIR548AC, UBE2E2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589947
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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