A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1151320



Internal ID19203312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:92079717..92087718hg38UCSC Ensembl
Outerchr9:94841999..94850000hg19UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg388002
hg198002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4003884
SamplesKWB1
Known GenesSPTLC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1151320
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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