A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538464



Internal ID15505496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:93222263..93275952hg38UCSC Ensembl
Innerchr5:92557969..92611658hg19UCSC Ensembl
Innerchr5:92583725..92637414hg18UCSC Ensembl
Innerchr5:92583725..92637414hg17UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3853690
hg1953690
hg1853690
hg1753690
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462253
Supporting Variants
SamplesHGDP00143
Known Genes
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)nssv538464
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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