A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5411285



Internal ID190595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:30100917..30100968hg38UCSC Ensembl
chr3:30142408..30142459hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16931378
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5411285
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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