A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1155497



Internal ID22086002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80627616..80639707hg38UCSC Ensembl
Outerchr17:80622528..80641024hg38UCSC Ensembl
Innerchr17:78601416..78613507hg19UCSC Ensembl
Outerchr17:78596328..78614824hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3818497
hg1918497
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv145n97
Supporting Variantsnssv4011877, nssv4011878
Samples
Known GenesRPTOR
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nsv1155497
Frequency
Sample Size131
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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