A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4757397



Internal ID20533257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53226631..53226631hg38UCSC Ensembl
chr8:54139191..54139191hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16264787
Samples
Known GenesOPRK1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4757397
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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