A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20222



Internal ID15827411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:27369794..27584256hg38UCSC Ensembl
Outerchr14:27271785..27585920hg38UCSC Ensembl
Innerchr14:27839000..28053462hg19UCSC Ensembl
Outerchr14:27740991..28055126hg19UCSC Ensembl
Innerchr14:26908840..27123302hg18UCSC Ensembl
Outerchr14:26810831..27124966hg18UCSC Ensembl
Innerchr14:26908840..27123302hg17UCSC 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 StatusS
Merged Variantsnsv9127
Supporting Variants
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)nssv20222
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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