A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554893



Internal ID328064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:116445983..116679035hg38UCSC Ensembl
chrX:115577149..115813003hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38233053
hg19235855
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17742186
Samples
Known GenesCXorf61, SLC6A14
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554893
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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