A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1903684



Internal ID17521260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:114582666..114583939hg38UCSC Ensembl
Innerchr11:114453388..114454661hg19UCSC Ensembl
Innerchr11:113958598..113959871hg18UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg381274
hg191274
hg181274
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975981
Supporting Variants
SamplesHGDP01284
Known GenesNXPE4
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)nssv1903684
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer