A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536150



Internal ID15163545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21960091..22219245hg38UCSC Ensembl
Innerchr22:22314463..22573637hg19UCSC Ensembl
Innerchr22:20644463..20903637hg18UCSC Ensembl
Innerchr22:20639017..20898191hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38259155
hg19259175
hg18259175
hg17259175
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459405
Supporting Variants
SamplesHGDP01211
Known GenesTOP3B
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)nssv536150
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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