A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5560478



Internal ID333485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:119016049..119016100hg38UCSC Ensembl
chrX:118150012..118150063hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737302
Samples
Known GenesLONRF3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5560478
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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