A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4011879



Internal ID22073510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80630401..80639707hg38UCSC Ensembl
Outerchr17:80627616..80641024hg38UCSC Ensembl
Innerchr17:78604201..78613507hg19UCSC Ensembl
Outerchr17:78601416..78614824hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3813409
hg1913409
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1155498
Supporting Variants
Samples
Known GenesRPTOR
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4011879
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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