A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536551



Internal ID15507289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:43274380..43338260hg38UCSC Ensembl
Innerchr22:43670386..43734266hg19UCSC Ensembl
Innerchr22:42000330..42064210hg18UCSC Ensembl
Innerchr22:41994884..42058764hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3863881
hg1963881
hg1863881
hg1763881
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459891
Supporting Variants
SamplesHGDP00638
Known GenesSCUBE1
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)nssv536551
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