A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17168126



Internal ID21500604
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 Variantsnsv5664625
Supporting Variants
SamplesNA19239
Known GenesOPHN1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17168126
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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