A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592059



Internal ID16032782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:151796802..151830277hg38UCSC Ensembl
Innerchr3:151514590..151548065hg19UCSC Ensembl
Innerchr3:152997280..153030755hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3833476
hg1933476
hg1833476
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8652n54
Supporting Variantsnssv976834
Samples
Known GenesAADAC, MIR548H2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592059
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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