A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10692



Internal ID15845655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:32259219..32263362hg38UCSC Ensembl
Outerchr5:32259325..32263468hg19UCSC Ensembl
Outerchr5:32295082..32299225hg18UCSC Ensembl
Outerchr5:32295082..32299225hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg384144
hg194144
hg184144
hg174144
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13398, nssv13136, nssv13344
SamplesNA18975, NA19007, NA18564
Known GenesMTMR12
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)nsv10692
Frequency
Sample Size31
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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