A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414387



Internal ID193670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:52442368..52444270hg38UCSC Ensembl
chrX:52185511..52187413hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg381903
hg191903
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17736988
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414387
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