A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536570



Internal ID15503486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:48735380..48755491hg38UCSC Ensembl
Innerchr22:49131192..49151303hg19UCSC Ensembl
Innerchr22:47517198..47537309hg18UCSC Ensembl
Innerchr22:47452055..47472166hg17UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg3820112
hg1920112
hg1820112
hg1720112
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459915
Supporting Variants
Samples1780862303_A
Known GenesFAM19A5
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)nssv536570
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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