A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1028960



Internal ID15535460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:37111463..37430263hg38UCSC Ensembl
Innerchr5:37111565..37430365hg19UCSC Ensembl
Innerchr5:37147322..37466122hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38318801
hg19318801
hg18318801
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv597823
Supporting Variants
Samples
Known GenesC5orf42, NUP155, WDR70
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1028960
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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