A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5401649



Internal ID181025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:59609224..59609275hg38UCSC Ensembl
chr3:59594950..59595001hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17734865
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5401649
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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