A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14352



Internal ID15486307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:1070104..1076917hg38UCSC Ensembl
Outerchr5:1069657..1077444hg38UCSC Ensembl
Innerchr5:1070219..1077032hg19UCSC Ensembl
Outerchr5:1069772..1077559hg19UCSC Ensembl
Innerchr5:1123219..1130032hg18UCSC Ensembl
Outerchr5:1122772..1130559hg18UCSC Ensembl
Innerchr5:1123219..1130032hg17UCSC Ensembl
Outerchr5:1122772..1130559hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg387788
hg197788
hg187788
hg177788
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10654
Supporting Variants
SamplesNA18502
Known GenesSLC12A7
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)nssv14352
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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