A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5413127



Internal ID192423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:69680954..69681005hg38UCSC Ensembl
chr10:71440710..71440761hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17035153
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5413127
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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