A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536184



Internal ID15161459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22200684..22712129hg38UCSC Ensembl
Innerchr22:22555078..23054614hg19UCSC Ensembl
Innerchr22:20885078..21384614hg18UCSC Ensembl
Innerchr22:20879632..21379168hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38511446
hg19499537
hg18499537
hg17499537
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459447
Supporting Variants
SamplesHGDP00775
Known GenesBMS1P20, GGTLC2, LOC648691, POM121L1P, PRAME, VPREB1, ZNF280A, ZNF280B
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)nssv536184
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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