A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5868819



Internal ID22643754
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 StatusM
Merged Variants
Supporting Variantsnssv17458532
Samples
Known GenesOPHN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5868819
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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