A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5483995



Internal ID261418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:102840766..102841552hg38UCSC Ensembl
chr8:103852994..103853780hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38787
hg19787
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17015817
Samples
Known GenesAZIN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5483995
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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