A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558445



Internal ID331507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:105493848..105493899hg38UCSC Ensembl
chrX:104737840..104737891hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737189
Samples
Known GenesIL1RAPL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558445
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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