A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5410500



Internal ID189815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:169667698..169667749hg38UCSC Ensembl
chr4:170588849..170588900hg19UCSC Ensembl
Cytoband4q33
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17735222
Samples
Known GenesCLCN3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5410500
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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