A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1878158



Internal ID17846268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:17137312..17138450hg38UCSC Ensembl
Innerchr11:17158859..17159997hg19UCSC Ensembl
Innerchr11:17115435..17116573hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg381139
hg191139
hg181139
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971989
Supporting Variants
SamplesHGDP01029
Known GenesPIK3C2A
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)nssv1878158
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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