A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17436209



Internal ID22494079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53234182..53234182hg38UCSC Ensembl
chr8:54146742..54146742hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5964902
Supporting Variants
Samples
Known GenesOPRK1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17436209
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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