A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596709



Internal ID16384118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:593968..685633hg38UCSC Ensembl
Innerchr5:594083..685748hg19UCSC Ensembl
Innerchr5:647083..738748hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3891666
hg1991666
hg1891666
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153283, nssv1021331
SamplesNINDS_256
Known GenesCEP72, LOC100996325, TPPP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596709
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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