A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17737748



Internal ID161414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:145245035..145400554hg38UCSC Ensembl
chrX:144326555..144482072hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38155520
hg19155518
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5414879
Supporting Variants
Samples
Known GenesSPANXN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17737748
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00291363


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