A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5428628



Internal ID207493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:65240598..65240649hg38UCSC Ensembl
chr12:65634378..65634429hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688668
Samples
Known GenesLEMD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5428628
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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