A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9895



Internal ID15501121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:28633973..28788289hg38UCSC Ensembl
Outerchr22:29029961..29184277hg19UCSC Ensembl
Outerchr22:27359961..27514277hg18UCSC Ensembl
Outerchr22:27354515..27508831hg17UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38154317
hg19154317
hg18154317
hg17154317
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26580, nssv26764
SamplesNA19144, NA18537
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)nsv9895
Frequency
Sample Size31
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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