A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459890



Internal ID15173269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:43152149..43183316hg38UCSC Ensembl
Innerchr22:43548155..43579322hg19UCSC Ensembl
Innerchr22:41878099..41909266hg18UCSC Ensembl
Innerchr22:41872653..41903820hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3831168
hg1931168
hg1831168
hg1731168
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536550
SamplesNINDS_101
Known GenesTSPO, TTLL12
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv459890
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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