A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8423



Internal ID15846335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:19125977..19128692hg38UCSC Ensembl
Outerchr9:19125975..19128690hg19UCSC Ensembl
Outerchr9:19115975..19118690hg18UCSC Ensembl
Outerchr9:19115975..19118690hg17UCSC Ensembl
Cytoband9p22.1
Allele length
AssemblyAllele length
hg382716
hg192716
hg182716
hg172716
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17853, nssv17475, nssv20714, nssv16390
SamplesNA12802, NA07048, NA18537, NA18517
Known GenesPLIN2
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)nsv8423
Frequency
Sample Size31
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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