A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17467109



Internal ID22525001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:68217533..68225353hg38UCSC Ensembl
chrX:67437375..67445195hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg387821
hg197821
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5875202
Supporting Variants
Samples
Known GenesOPHN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17467109
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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