A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427597



Internal ID206498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50197909..50197947hg38UCSC Ensembl
chr12:50591692..50591730hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056465
Samples
Known GenesLIMA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427597
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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