A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459899



Internal ID15519964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:44432197..44442790hg38UCSC Ensembl
Innerchr22:44828077..44838670hg19UCSC Ensembl
Innerchr22:43206741..43217334hg18UCSC Ensembl
Innerchr22:43148614..43159207hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3810594
hg1910594
hg1810594
hg1710594
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536558
SamplesNINDS_50
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)nsv459899
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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