A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9912



Internal ID15847824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:42487331..42585567hg38UCSC Ensembl
Outerchr22:42883337..42981573hg19UCSC Ensembl
Outerchr22:41213281..41311517hg18UCSC Ensembl
Outerchr22:41207835..41306071hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3898237
hg1998237
hg1898237
hg1798237
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv22655, nssv28064, nssv28168, nssv26647, nssv26459, nssv26209, nssv28166, nssv26042, nssv27868, nssv26323, nssv26123, nssv25416, nssv26041, nssv25471, nssv27990, nssv27954, nssv26634, nssv25761
SamplesNA18502, NA11830, NA18980, NA18563, NA18860, NA19007, NA10847, NA10863, NA18537, NA18853, NA19132, NA18517, NA18564, NA19173, NA18972
Known GenesPOLDIP3, RRP7A, RRP7B, SERHL, 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)nsv9912
Frequency
Sample Size31
Observed Gain14
Observed Loss1
Observed Complex0
Frequencyn/a


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