A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536274



Internal ID15512123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22438063..22598164hg38UCSC Ensembl
Innerchr22:22792400..22940634hg19UCSC Ensembl
Innerchr22:21122400..21270634hg18UCSC Ensembl
Innerchr22:21116954..21265188hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38160102
hg19148235
hg18148235
hg17148235
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459539
Supporting Variants
SamplesNINDS_203
Known GenesLOC648691, 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)nssv536274
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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