A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14322



Internal ID15486236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:1034638..1038639hg38UCSC Ensembl
Outerchr5:1033721..1039195hg38UCSC Ensembl
Innerchr5:1034753..1038754hg19UCSC Ensembl
Outerchr5:1033836..1039310hg19UCSC Ensembl
Innerchr5:1087753..1091754hg18UCSC Ensembl
Outerchr5:1086836..1092310hg18UCSC Ensembl
Innerchr5:1087753..1091754hg17UCSC Ensembl
Outerchr5:1086836..1092310hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg385475
hg195475
hg185475
hg175475
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10654
Supporting Variants
SamplesNA18502
Known GenesNKD2
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv14322
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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