A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430484



Internal ID209292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:878786..878786hg38UCSC Ensembl
chr12:987952..987952hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17051970
Samples
Known GenesWNK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430484
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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