A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462112



Internal ID15175491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:33399094..33463006hg38UCSC Ensembl
Innerchr5:33399200..33463111hg19UCSC Ensembl
Innerchr5:33434957..33498868hg18UCSC Ensembl
Innerchr5:33434957..33498868hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3863913
hg1963912
hg1863912
hg1763912
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv699n27
Supporting Variantsnssv538364
SamplesHGDP01057
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)nsv462112
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer