A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960151



Internal ID18595404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80599592..80602963hg38UCSC Ensembl
Innerchr17:78573392..78576763hg19UCSC Ensembl
Innerchr17:76187987..76191358hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg383372
hg193372
hg183372
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2112942, nssv2112943, nssv2112941, nssv2112947, nssv2112946, nssv2112939, nssv2112940, nssv2112945, nssv2112944, nssv2112938
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRPTOR
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960151
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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