A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459471



Internal ID15172850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22345751..22769368hg38UCSC Ensembl
Innerchr22:22700102..23111861hg19UCSC Ensembl
Innerchr22:21030102..21441861hg18UCSC Ensembl
Innerchr22:21024656..21436415hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38423618
hg19411760
hg18411760
hg17411760
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv551n27
Supporting Variantsnssv536208
SamplesHGDP00522
Known GenesGGTLC2, LOC648691, 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)nsv459471
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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