A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423409



Internal ID202431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:86544094..86624224hg38UCSC Ensembl
chr1:87009777..87089907hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3880131
hg1980131
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16905843
Samples
Known GenesCLCA4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423409
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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