A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17740982



Internal ID164648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:80060542..80068542hg38UCSC Ensembl
chrX:79316041..79324041hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg388001
hg198001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5422452
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17740982
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00209205


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