A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596710



Internal ID16384119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:595755..729907hg38UCSC Ensembl
Innerchr5:595870..730022hg19UCSC Ensembl
Innerchr5:648870..783022hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38134153
hg19134153
hg18134153
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1021332
Samples
Known GenesCEP72, LOC100996325, TPPP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596710
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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