A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556843



Internal ID329968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:65511370..65511421hg38UCSC Ensembl
chr8:66423605..66423656hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg385979
hg195979
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17013667
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556843
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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