A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132350



Internal ID18924226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:106853974..106855374hg38UCSC Ensembl
Outerchr11:106724700..106726100hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg381401
hg191401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3987123
SamplesKWS1
Known GenesGUCY1A2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132350
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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