A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14103892



Internal ID21284451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:39598810..39604052hg38UCSC Ensembl
Innerchr22:39994815..40000057hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg385243
hg195243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3110154
Supporting Variants
Samplessample361
Known GenesCACNA1I
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14103892
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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