A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4011875



Internal ID22073506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80553674..80559490hg38UCSC Ensembl
Outerchr17:80553289..80561749hg38UCSC Ensembl
Innerchr17:78527474..78533290hg19UCSC Ensembl
Outerchr17:78527089..78535549hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg388461
hg198461
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1155495
Supporting Variants
Samples
Known GenesRPTOR
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4011875
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer