A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459856



Internal ID15519921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25331025..25430099hg38UCSC Ensembl
Innerchr22:25726992..25826066hg19UCSC Ensembl
Innerchr22:24056992..24156066hg18UCSC Ensembl
Innerchr22:24051546..24150620hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3899075
hg1999075
hg1899075
hg1799075
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536526
SamplesHGDP00564
Known GenesLRP5L
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)nsv459856
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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