A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536523



Internal ID15506833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25303640..25365969hg38UCSC Ensembl
Innerchr22:25699607..25761936hg19UCSC Ensembl
Innerchr22:24029607..24091936hg18UCSC Ensembl
Innerchr22:24024161..24086490hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3862330
hg1962330
hg1862330
hg1762330
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459853
Supporting Variants
SamplesHGDP00562
Known GenesIGLL3P, LRP5L
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)nssv536523
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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