A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553984



Internal ID327182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80659476..80659527hg38UCSC Ensembl
chr8:81571711..81571762hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17013367
Samples
Known GenesZNF704
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553984
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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