A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592056



Internal ID16032779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:151796802..151816801hg38UCSC Ensembl
Innerchr3:151514590..151534589hg19UCSC Ensembl
Innerchr3:152997280..153017279hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3820000
hg1920000
hg1820000
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv976792
Samples
Known GenesAADAC, MIR548H2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592056
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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