A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462113



Internal ID15175492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:33399094..33475695hg38UCSC Ensembl
Innerchr5:33399200..33475800hg19UCSC Ensembl
Innerchr5:33434957..33511557hg18UCSC Ensembl
Innerchr5:33434957..33511557hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3876602
hg1976601
hg1876601
hg1776601
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv699n27
Supporting Variantsnssv538365
SamplesHGDP01047
Known GenesTARS
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)nsv462113
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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