A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5484682



Internal ID262093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:78298508..78704406hg38UCSC Ensembl
chr7:77927825..78333722hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38405899
hg19405898
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17001177
Samples
Known GenesMAGI2, MIR548AU, RPL13AP17
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5484682
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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