A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5394762



Internal ID174189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:63865403..63865454hg38UCSC Ensembl
chr6:64575296..64575347hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16986062
Samples
Known GenesEYS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5394762
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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