A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470808



Internal ID248554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:109648343..109651672hg38UCSC Ensembl
chr6:109969546..109972875hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg383330
hg193330
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16986399
Samples
Known GenesAK9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470808
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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