A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414384



Internal ID193667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:132817293..132824809hg38UCSC Ensembl
chrX:131951321..131958837hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg387517
hg197517
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17742388
Samples
Known GenesHS6ST2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414384
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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