A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9175



Internal ID15500401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:105030172..105222604hg38UCSC Ensembl
Outerchr14:105496509..105688941hg19UCSC Ensembl
Outerchr14:104567554..104759986hg18UCSC Ensembl
Outerchr14:104567554..104759986hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38192433
hg19192433
hg18192433
hg17192433
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv23026, nssv24965, nssv26821
SamplesNA19144, NA18502, NA19221
Known GenesBRF1, GPR132, JAG2, MIR6765, NUDT14
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)nsv9175
Frequency
Sample Size31
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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