A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13824



Internal ID15493288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141175234..141181441hg38UCSC Ensembl
Outerchr5:141174935..141182050hg38UCSC Ensembl
Innerchr5:140554815..140561022hg19UCSC Ensembl
Outerchr5:140554516..140561625hg19UCSC Ensembl
Innerchr5:140534999..140541206hg18UCSC Ensembl
Outerchr5:140534700..140541809hg18UCSC Ensembl
Innerchr5:140534999..140541206hg17UCSC 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 StatusS
Merged Variantsnsv10756
Supporting Variants
SamplesNA18975
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)nssv13824
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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