A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17458532



Internal ID22516415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:68325581..68327825hg38UCSC Ensembl
chrX:67545423..67547667hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg382245
hg192245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5868819
Supporting Variants
Samples
Known GenesOPHN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17458532
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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