A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442511



Internal ID220936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:193105459..193107910hg38UCSC Ensembl
chr1:193074589..193077040hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg382452
hg192452
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16893862
Samples
Known GenesGLRX2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442511
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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