A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147639



Internal ID18856217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:114548977..114552178hg38UCSC Ensembl
Outerchr11:114419699..114422900hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg383202
hg193202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3996427
SamplesKWB1
Known GenesNXPE1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147639
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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