A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1902373



Internal ID17763055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:101472104..101472970hg38UCSC Ensembl
Innerchr11:101342835..101343701hg19UCSC Ensembl
Innerchr11:100848045..100848911hg18UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg38867
hg19867
hg18867
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983058
Supporting Variants
SamplesHGDP00542
Known GenesTRPC6
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)nssv1902373
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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