A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14094591



Internal ID21270079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:29554306..29561163hg38UCSC Ensembl
Innerchr13:30128443..30135300hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg386858
hg196858
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3110646
Supporting Variants
Samplessample146
Known GenesSLC7A1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14094591
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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