A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480116



Internal ID257626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:96737710..96740507hg38UCSC Ensembl
chr8:97749938..97752735hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg382798
hg192798
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17014602
Samples
Known GenesCPQ
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480116
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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