A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459889



Internal ID15173268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:43069523..43122318hg38UCSC Ensembl
Innerchr22:43465529..43518324hg19UCSC Ensembl
Innerchr22:41795473..41848268hg18UCSC Ensembl
Innerchr22:41790027..41842822hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3852796
hg1952796
hg1852796
hg1752796
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536549
SamplesHGDP00025
Known GenesBIK, TTLL1
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)nsv459889
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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