A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468148



Internal ID245951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:110832261..110835308hg38UCSC Ensembl
chr6:111153464..111156511hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg383048
hg193048
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16988008
Samples
Known GenesAMD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468148
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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