A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1153652



Internal ID19202686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:105383549..105387150hg38UCSC Ensembl
Outerchr13:106035899..106039500hg19UCSC Ensembl
Cytoband13q33.2
Allele length
AssemblyAllele length
hg383602
hg193602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4002304
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1153652
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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