A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17741001



Internal ID164667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:80685702..80686136hg38UCSC Ensembl
chrX:79941201..79941635hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38435
hg19435
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5432814
Supporting Variants
Samples
Known GenesBRWD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17741001
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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