A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1151158



Internal ID18850941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:28454778..28468679hg38UCSC Ensembl
Outerchr16:28466099..28480000hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3813902
hg1913902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4002090
SamplesKWB1
Known GenesCLN3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1151158
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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