A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5479267



Internal ID256795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:96777911..96779169hg38UCSC Ensembl
chr8:97790139..97791397hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg381259
hg191259
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17014606
Samples
Known GenesCPQ
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5479267
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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