A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419040



Internal ID198188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:125100327..125102451hg38UCSC Ensembl
chrX:124234176..124236300hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg382125
hg192125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17742229
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419040
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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