A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417093



Internal ID196298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:69041582..69043100hg38UCSC Ensembl
chrX:68261425..68262943hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg381519
hg191519
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740561
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417093
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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