A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9127



Internal ID15847039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:27271785..27585920hg38UCSC Ensembl
Outerchr14:27740991..28055126hg19UCSC Ensembl
Outerchr14:26810831..27124966hg18UCSC Ensembl
Outerchr14:26810831..27124966hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38314136
hg19314136
hg18314136
hg17314136
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv20222
SamplesNA07029
Known Genes
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)nsv9127
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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