A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478827



Internal ID256374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:36890927..36891110hg38UCSC Ensembl
chr8:36748445..36748628hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17010572
Samples
Known GenesKCNU1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478827
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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