A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10710



Internal ID15498987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:80660627..80669130hg38UCSC Ensembl
Outerchr5:79956446..79964949hg19UCSC Ensembl
Outerchr5:79992202..80000705hg18UCSC Ensembl
Outerchr5:79992202..80000705hg17UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg388504
hg198504
hg188504
hg178504
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13668, nssv13072, nssv13247, nssv15291, nssv13979
SamplesNA18563, NA18860, NA18942, NA18564, NA19173
Known GenesMSH3
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)nsv10710
Frequency
Sample Size31
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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