A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26580



Internal ID15488127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:28676666..28695743hg38UCSC Ensembl
Outerchr22:28633973..28711961hg38UCSC Ensembl
Innerchr22:29072654..29091731hg19UCSC Ensembl
Outerchr22:29029961..29107949hg19UCSC Ensembl
Innerchr22:27402654..27421731hg18UCSC Ensembl
Outerchr22:27359961..27437949hg18UCSC Ensembl
Innerchr22:27397208..27416285hg17UCSC Ensembl
Outerchr22:27354515..27432503hg17UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg3877989
hg1977989
hg1877989
hg1777989
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9895
Supporting Variants
SamplesNA18537
Known GenesCHEK2, 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)nssv26580
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer