A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419391



Internal ID198523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:29718584..29720688hg38UCSC Ensembl
chrX:29736701..29738805hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg382105
hg192105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17736377
Samples
Known GenesIL1RAPL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419391
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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