A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5489603



Internal ID266877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:78787489..78787645hg38UCSC Ensembl
chr7:78416805..78416961hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17001208
Samples
Known GenesMAGI2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5489603
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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