A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5561064



Internal ID334052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:47823279..47823330hg38UCSC Ensembl
chr6:47791015..47791066hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg381198
hg191198
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16981518
Samples
Known GenesOPN5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5561064
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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