A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1904996



Internal ID17796589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:117034587..117036595hg38UCSC Ensembl
Innerchr11:116905303..116907311hg19UCSC Ensembl
Innerchr11:116410513..116412521hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg382009
hg192009
hg182009
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983064
Supporting Variants
SamplesHGDP00778
Known GenesSIK3
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)nssv1904996
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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