A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5402522



Internal ID181891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:165478452..165478503hg38UCSC Ensembl
chr1:165447689..165447740hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891752
Samples
Known GenesLOC400794
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5402522
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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