A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5411712



Internal ID191018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:12216332..12216381hg38UCSC Ensembl
chr11:12237879..12237928hg19UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17042881
Samples
Known GenesMICAL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5411712
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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