A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8040



Internal ID15499266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:6746177..6755435hg38UCSC Ensembl
Outerchr7:6785808..6795066hg19UCSC Ensembl
Outerchr7:6752333..6761591hg18UCSC Ensembl
Outerchr7:6559048..6568306hg17UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg389259
hg199259
hg189259
hg179259
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18210
SamplesNA19221
Known GenesPMS2CL, RSPH10B, RSPH10B2
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)nsv8040
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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