A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26764



Internal ID15495880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:28676666..28711961hg38UCSC Ensembl
Outerchr22:28633973..28788289hg38UCSC Ensembl
Innerchr22:29072654..29107949hg19UCSC Ensembl
Outerchr22:29029961..29184277hg19UCSC Ensembl
Innerchr22:27402654..27437949hg18UCSC Ensembl
Outerchr22:27359961..27514277hg18UCSC Ensembl
Innerchr22:27397208..27432503hg17UCSC Ensembl
Outerchr22:27354515..27508831hg17UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38154317
hg19154317
hg18154317
hg17154317
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9895
Supporting Variants
SamplesNA19144
Known GenesCCDC117, CHEK2, HSCB, TTC28
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)nssv26764
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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