A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430721



Internal ID209518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:105492820..105493079hg38UCSC Ensembl
chrX:104736812..104737071hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737188
Samples
Known GenesIL1RAPL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430721
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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