A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5545340



Internal ID319390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:55743945..55743962hg38UCSC Ensembl
chrX:55770378..55770395hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740218
Samples
Known GenesRRAGB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5545340
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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