A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459483



Internal ID15519548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22362208..22897847hg38UCSC Ensembl
Innerchr22:22716568..23240027hg19UCSC Ensembl
Innerchr22:21046568..21570027hg18UCSC Ensembl
Innerchr22:21041122..21564581hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38535640
hg19523460
hg18523460
hg17523460
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv551n27
Supporting Variantsnssv536220
SamplesHGDP00517
Known GenesGGTLC2, IGLL5, LOC648691, MIR650, POM121L1P, PRAME, ZNF280A, ZNF280B
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)nsv459483
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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