A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1153694



Internal ID19196791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:29320682..29328783hg38UCSC Ensembl
Outerchr8:29178199..29186300hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg388102
hg198102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4002348
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1153694
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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