A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417008



Internal ID196215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:117679079..117681794hg38UCSC Ensembl
chrX:116813042..116815757hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg382716
hg192716
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737238
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417008
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