A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117683



Internal ID21300949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:45391792..45398977hg38UCSC Ensembl
Innerchr13:45965927..45973112hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg387186
hg197186
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14092961
Samplessample397
Known GenesSLC25A30
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117683
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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