A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14708



Internal ID15484254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140844050..140856783hg38UCSC Ensembl
Outerchr5:140842575..140857862hg38UCSC Ensembl
Innerchr5:140223635..140236368hg19UCSC Ensembl
Outerchr5:140222160..140237447hg19UCSC Ensembl
Innerchr5:140203819..140216552hg18UCSC Ensembl
Outerchr5:140202344..140217631hg18UCSC Ensembl
Innerchr5:140203819..140216552hg17UCSC Ensembl
Outerchr5:140202344..140217631hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3815288
hg1915288
hg1815288
hg1715288
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10753
Supporting Variants
SamplesNA12155
Known GenesPCDHA1, PCDHA10, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
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)nssv14708
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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