A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538432



Internal ID15163859
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 Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462215
Supporting Variants
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)nssv538432
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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