A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459449



Internal ID15172828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22208485..22720127hg38UCSC Ensembl
Innerchr22:22562874..23062612hg19UCSC Ensembl
Innerchr22:20892874..21392612hg18UCSC Ensembl
Innerchr22:20887428..21387166hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38511643
hg19499739
hg18499739
hg17499739
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv548n27
Supporting Variantsnssv536186
SamplesHGDP00903
Known GenesBMS1P20, GGTLC2, LOC648691, POM121L1P, PRAME, VPREB1, 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)nsv459449
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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