A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5412803



Internal ID192104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:94213229..94213229hg38UCSC Ensembl
chr3:93932073..93932073hg19UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg38207
hg19207
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16936984
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5412803
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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