A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596611



Internal ID16037334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:188803..263921hg38UCSC Ensembl
Innerchr5:188918..264036hg19UCSC Ensembl
Innerchr5:241918..317036hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3875119
hg1975119
hg1875119
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1021052
Samples
Known GenesCCDC127, LRRC14B, PLEKHG4B, SDHA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596611
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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