A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116686



Internal ID18907908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:132054373..132060410hg38UCSC Ensembl
Outerchr11:131924267..131930304hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg386038
hg196038
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979250
SamplesKWS2
Known GenesNTM
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116686
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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