A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459876



Internal ID15173255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:33350638..33380444hg38UCSC Ensembl
Innerchr22:33746624..33776430hg19UCSC Ensembl
Innerchr22:32076624..32106430hg18UCSC Ensembl
Innerchr22:32071178..32100984hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3829807
hg1929807
hg1829807
hg1729807
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536540
SamplesHGDP00141
Known GenesLARGE
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)nsv459876
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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