A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1040229



Internal ID15893415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:109193028..109340036hg38UCSC Ensembl
Innerchr5:108528729..108675737hg19UCSC Ensembl
Innerchr5:108556628..108703636hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38147009
hg19147009
hg18147009
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv599338
Supporting Variants
Samples
Known GenesPJA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1040229
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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