A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462452



Internal ID15175831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:132408085..132468815hg38UCSC Ensembl
Innerchr5:131743777..131804507hg19UCSC Ensembl
Innerchr5:131771676..131832406hg18UCSC Ensembl
Innerchr5:131771676..131832406hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3860731
hg1960731
hg1860731
hg1760731
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538611
SamplesHGDP01187
Known GenesC5orf56
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)nsv462452
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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