A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459882



Internal ID15173261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:36967923..37161398hg38UCSC Ensembl
Innerchr22:37363964..37557438hg19UCSC Ensembl
Innerchr22:35693910..35887384hg18UCSC Ensembl
Innerchr22:35688464..35881938hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38193476
hg19193475
hg18193475
hg17193475
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536543
SamplesHGDP00627
Known GenesIL2RB, KCTD17, LOC100506241, MPST, TEX33, TMPRSS6, TST
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)nsv459882
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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