A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14092961



Internal ID21287020
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 StatusS
Merged Variantsnsv3117683
Supporting Variants
Samplessample397
Known GenesSLC25A30
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14092961
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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