A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459682



Internal ID15173061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23579240..23652869hg38UCSC Ensembl
Innerchr22:23921427..23995056hg19UCSC Ensembl
Innerchr22:22251427..22325056hg18UCSC Ensembl
Innerchr22:22245981..22319610hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3873630
hg1973630
hg1873630
hg1773630
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536408
SamplesHGDP00473
Known GenesC22orf43, GUSBP11, IGLL1
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)nsv459682
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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