A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996427



Internal ID18840730
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 StatusS
Merged Variantsnsv1147639
Supporting Variants
SamplesKWB1
Known GenesNXPE1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996427
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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