A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26647



Internal ID15488167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42566755..42582161hg38UCSC Ensembl
Outerchr22:42566273..42585099hg38UCSC Ensembl
Innerchr22:42962761..42978167hg19UCSC Ensembl
Outerchr22:42962279..42981105hg19UCSC Ensembl
Innerchr22:41292705..41308111hg18UCSC Ensembl
Outerchr22:41292223..41311049hg18UCSC Ensembl
Innerchr22:41287259..41302665hg17UCSC Ensembl
Outerchr22:41286777..41305603hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3818827
hg1918827
hg1818827
hg1718827
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9912
Supporting Variants
SamplesNA18537
Known GenesPOLDIP3, RRP7B, SERHL2
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)nssv26647
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