A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536567



Internal ID15507383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:47315065..47352800hg38UCSC Ensembl
Innerchr22:47710815..47748550hg19UCSC Ensembl
Innerchr22:46089479..46127214hg18UCSC Ensembl
Innerchr22:46031334..46069069hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3837736
hg1937736
hg1837736
hg1737736
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459911
Supporting Variants
SamplesHGDP00650
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)nssv536567
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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