A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459459



Internal ID15172838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22326954..22892612hg38UCSC Ensembl
Innerchr22:22681312..23234792hg19UCSC Ensembl
Innerchr22:21011312..21564792hg18UCSC Ensembl
Innerchr22:21005866..21559346hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38565659
hg19553481
hg18553481
hg17553481
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv551n27
Supporting Variantsnssv536196
SamplesHGDP00777
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)nsv459459
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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