A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5460118



Internal ID238112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:64330122..64344863hg38UCSC Ensembl
chr6:65040015..65054756hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3814742
hg1914742
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16986088
Samples
Known GenesEYS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5460118
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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