A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420266



Internal ID199373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:56536022..56536073hg38UCSC Ensembl
chr19:57047391..57047442hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17725796
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420266
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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