A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536267



Internal ID15160975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22416581..22866340hg38UCSC Ensembl
Innerchr22:22770917..23208519hg19UCSC Ensembl
Innerchr22:21100917..21538519hg18UCSC Ensembl
Innerchr22:21095471..21533073hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38449760
hg19437603
hg18437603
hg17437603
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459532
Supporting Variants
SamplesHGDP00693
Known GenesGGTLC2, LOC648691, MIR650, POM121L1P, PRAME, 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)nssv536267
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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