A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10756



Internal ID15845719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:141174935..141182050hg38UCSC Ensembl
Outerchr5:140554516..140561625hg19UCSC Ensembl
Outerchr5:140534700..140541809hg18UCSC Ensembl
Outerchr5:140534700..140541809hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg387116
hg197110
hg187110
hg177110
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13517, nssv13805, nssv13824, nssv14828, nssv13807, nssv13342, nssv15824, nssv12791, nssv14283, nssv14028, nssv14226, nssv13645, nssv13725, nssv13586, nssv13000, nssv15657, nssv14254
SamplesNA11830, NA18980, NA12155, NA18563, NA12802, NA18942, NA07048, NA10839, NA18975, NA19007, NA10847, NA10863, NA12872, NA18537, NA19132, NA18517, NA18564
Known GenesPCDHB16, PCDHB7, PCDHB8
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)nsv10756
Frequency
Sample Size31
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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