A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17742234



Internal ID165900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:125203000..125203085hg38UCSC Ensembl
chrX:124336849..124336934hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5414018
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17742234
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001405


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