A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10426



Internal ID15845389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:3477763..3565983hg38UCSC Ensembl
Outerchr4:3479490..3567710hg19UCSC Ensembl
Outerchr4:3449288..3537508hg18UCSC Ensembl
Outerchr4:3516459..3604679hg17UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg3888221
hg1988221
hg1888221
hg1788221
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv12883, nssv13740
SamplesNA18504, NA19221
Known GenesDOK7, LRPAP1
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)nsv10426
Frequency
Sample Size31
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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