A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17740516



Internal ID164182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:68151672..68151818hg38UCSC Ensembl
chrX:67371514..67371660hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5433741
Supporting Variants
Samples
Known GenesOPHN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17740516
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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