A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424111



Internal ID203112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:20118618..20136341hg38UCSC Ensembl
chrX:20136736..20154459hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg3817724
hg1917724
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739552
Samples
Known GenesEIF1AX, SCARNA9L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424111
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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