A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17739742



Internal ID163408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:24569939..24571139hg38UCSC Ensembl
chrX:24588056..24589256hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg381201
hg191201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5424202
Supporting Variants
Samples
Known GenesPCYT1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17739742
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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