A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447424



Internal ID225728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201013444..201013505hg38UCSC Ensembl
chr2:201878167..201878228hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922872
Samples
Known GenesFAM126B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447424
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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