A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125532



Internal ID18911142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:106709911..106709971hg38UCSC Ensembl
Outerchr11:106580637..106580697hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961037, nssv3993622
SamplesKWS1, KWS2
Known GenesGUCY1A2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125532
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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