A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414461



Internal ID193743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:80958542..80977000hg38UCSC Ensembl
chrX:80214041..80232499hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3818459
hg1918459
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17741016
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414461
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer