A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17740741



Internal ID164407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:73869458..73870999hg38UCSC Ensembl
chrX:73089293..73090834hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg381542
hg191542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5422440
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17740741
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002185


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