A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1888219



Internal ID17763867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:54655724..54660623hg38UCSC Ensembl
Innerchr11:51458657..51463556hg19UCSC Ensembl
Innerchr11:51315233..51320132hg18UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg384900
hg194900
hg184900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv975843
Supporting Variants
SamplesHGDP00542
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1888219
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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