A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17740979



Internal ID164645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:80006000..80076542hg38UCSC Ensembl
chrX:79261499..79332041hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3870543
hg1970543
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5425325
Supporting Variants
Samples
Known GenesTBX22
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17740979
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000836645


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