A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2111952



Internal ID17883134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80462211..80465226hg38UCSC Ensembl
Innerchr17:78436011..78439026hg19UCSC Ensembl
Innerchr17:76050606..76053621hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg383016
hg193016
hg183016
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960149
Supporting Variants
SamplesHGDP01307
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2111952
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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