A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17741312



Internal ID164978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:88423713..88431970hg38UCSC Ensembl
chrX:87678714..87686971hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg388258
hg198258
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5421592
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17741312
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00062435


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