A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459913



Internal ID15519978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:48407632..48456751hg38UCSC Ensembl
Innerchr22:48803444..48852563hg19UCSC Ensembl
Innerchr22:47182108..47231227hg18UCSC Ensembl
Innerchr22:47123963..47173082hg17UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg3849120
hg1949120
hg1849120
hg1749120
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536568
SamplesHGDP00947
Known Genes
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)nsv459913
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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