A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13725



Internal ID15488040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141175234..141179242hg38UCSC Ensembl
Outerchr5:141174935..141181441hg38UCSC Ensembl
Innerchr5:140554815..140558823hg19UCSC Ensembl
Outerchr5:140554516..140561022hg19UCSC Ensembl
Innerchr5:140534999..140539007hg18UCSC Ensembl
Outerchr5:140534700..140541206hg18UCSC Ensembl
Innerchr5:140534999..140539007hg17UCSC Ensembl
Outerchr5:140534700..140541206hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg386507
hg196507
hg186507
hg176507
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10756
Supporting Variants
SamplesNA18537
Known GenesPCDHB7, 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)nssv13725
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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