A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524591



Internal ID15451884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80715103..80718204hg38UCSC Ensembl
Innerchr17:78688903..78692004hg19UCSC Ensembl
Innerchr17:76303498..76306599hg18UCSC Ensembl
Innerchr17:76303498..76306599hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg383102
hg193102
hg183102
hg173102
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv700550
Samples
Known GenesRPTOR
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524591
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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