A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538218



Internal ID15504963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:567131..618471hg38UCSC Ensembl
Innerchr5:567246..618586hg19UCSC Ensembl
Innerchr5:620246..671586hg18UCSC Ensembl
Innerchr5:620246..671586hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3851341
hg1951341
hg1851341
hg1751341
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461892
Supporting Variants
SamplesHGDP00011
Known GenesCEP72, LOC100996325
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)nssv538218
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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