A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5402103



Internal ID181476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:70845656..70845656hg38UCSC Ensembl
chr10:72605413..72605413hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17037484
Samples
Known GenesSGPL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5402103
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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