A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28168



Internal ID15491837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42566755..42585099hg38UCSC Ensembl
Outerchr22:42566273..42585567hg38UCSC Ensembl
Innerchr22:42962761..42981105hg19UCSC Ensembl
Outerchr22:42962279..42981573hg19UCSC Ensembl
Innerchr22:41292705..41311049hg18UCSC Ensembl
Outerchr22:41292223..41311517hg18UCSC Ensembl
Innerchr22:41287259..41305603hg17UCSC Ensembl
Outerchr22:41286777..41306071hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3819295
hg1919295
hg1819295
hg1719295
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9912
Supporting Variants
SamplesNA18860
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)nssv28168
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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