A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459901



Internal ID15519966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:44780091..44862577hg38UCSC Ensembl
Innerchr22:45175971..45258457hg19UCSC Ensembl
Innerchr22:43554635..43637121hg18UCSC Ensembl
Innerchr22:43496508..43578994hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3882487
hg1982487
hg1882487
hg1782487
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536559
SamplesHGDP00629
Known GenesARHGAP8, PRR5-ARHGAP8
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)nsv459901
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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