A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1905770



Internal ID17748376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:117335654..117336894hg38UCSC Ensembl
Innerchr11:117206370..117207610hg19UCSC Ensembl
Innerchr11:116711580..116712820hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381241
hg191241
hg181241
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972074
Supporting Variants
SamplesHGDP00521
Known GenesCEP164
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)nssv1905770
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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