A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427493



Internal ID206397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:84089642..84092494hg38UCSC Ensembl
chrX:83344650..83347502hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg382853
hg192853
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17741118
Samples
Known GenesRPS6KA6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427493
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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