A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5476074



Internal ID253695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:116162655..116162742hg38UCSC Ensembl
chr8:117174880..117174967hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17017939
Samples
Known GenesLINC00536
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5476074
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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