A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459864



Internal ID15519929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:27364125..27469383hg38UCSC Ensembl
Innerchr22:27760086..27865344hg19UCSC Ensembl
Innerchr22:26090086..26195344hg18UCSC Ensembl
Innerchr22:26084640..26189898hg17UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38105259
hg19105259
hg18105259
hg17105259
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536531
SamplesHGDP01320
Known Genes
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)nsv459864
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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