A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430341



Internal ID209153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55049215..55049266hg38UCSC Ensembl
chr12:55442999..55443050hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056550
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430341
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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