A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1153283



Internal ID15880717
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 StatusS
Merged Variantsnsv596709
Supporting Variants
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)nssv1153283
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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