A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538216



Internal ID15159363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:438449..539195hg38UCSC Ensembl
Innerchr5:438564..539310hg19UCSC Ensembl
Innerchr5:491564..592310hg18UCSC Ensembl
Innerchr5:491564..592310hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38100747
hg19100747
hg18100747
hg17100747
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461890
Supporting Variants
SamplesHGDP00338
Known GenesC5orf55, EXOC3, MIR4456, PP7080, SLC9A3
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)nssv538216
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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