A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543682



Internal ID317913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:11706008..11706008hg38UCSC Ensembl
chrX:11724128..11724128hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38517
hg19517
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739261
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543682
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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