A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5552638



Internal ID325967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122278688..122278739hg38UCSC Ensembl
chr3:121997535..121997586hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16939475
Samples
Known GenesCASR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5552638
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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