A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1905883



Internal ID17875978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:118391921..118392830hg38UCSC Ensembl
Innerchr11:118262636..118263545hg19UCSC Ensembl
Innerchr11:117767846..117768755hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38910
hg19910
hg18910
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972076
Supporting Variants
SamplesHGDP01307
Known GenesLOC100131626, UBE4A
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)nssv1905883
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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