A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1892512



Internal ID17392094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:63541758..63543741hg38UCSC Ensembl
Innerchr11:63309230..63311213hg19UCSC Ensembl
Innerchr11:63065806..63067789hg18UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg381984
hg191984
hg181984
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975940
Supporting Variants
SamplesHGDP00456
Known GenesMIR3680-1, MIR3680-2, RARRES3
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)nssv1892512
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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