A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457970



Internal ID15518035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80921353..80977377hg38UCSC Ensembl
Innerchr17:78895153..78951177hg19UCSC Ensembl
Innerchr17:76509748..76565772hg18UCSC Ensembl
Innerchr17:76509748..76565772hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3856025
hg1956025
hg1856025
hg1756025
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535055
Samples1788485381_A
Known GenesRPTOR
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)nsv457970
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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