A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462215



Internal ID15175594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:79023799..79055813hg38UCSC Ensembl
Innerchr5:78319622..78351636hg19UCSC Ensembl
Innerchr5:78355378..78387392hg18UCSC Ensembl
Innerchr5:78355378..78387392hg17UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3832015
hg1932015
hg1832015
hg1732015
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538432
SamplesHGDP01262
Known GenesDMGDH
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)nsv462215
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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