A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14481



Internal ID15491859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:1021594..1077444hg38UCSC Ensembl
Outerchr5:1021071..1078645hg38UCSC Ensembl
Innerchr5:1021709..1077559hg19UCSC Ensembl
Outerchr5:1021186..1078760hg19UCSC Ensembl
Innerchr5:1074709..1130559hg18UCSC Ensembl
Outerchr5:1074186..1131760hg18UCSC Ensembl
Innerchr5:1074709..1130559hg17UCSC Ensembl
Outerchr5:1074186..1131760hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3857575
hg1957575
hg1857575
hg1757575
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10654
Supporting Variants
SamplesNA18860
Known GenesMIR4635, NKD2, SLC12A7
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)nssv14481
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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