A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459904



Internal ID15519969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:46079585..46103554hg38UCSC Ensembl
Innerchr22:46475465..46499434hg19UCSC Ensembl
Innerchr22:44854129..44878098hg18UCSC Ensembl
Innerchr22:44795984..44819953hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3823970
hg1923970
hg1823970
hg1723970
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536561
SamplesHGDP01351
Known GenesMIR3619, MIRLET7BHG
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)nsv459904
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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