A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5477099



Internal ID254693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:79111693..79128897hg38UCSC Ensembl
chr7:78741009..78758213hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3817205
hg1917205
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17001247
Samples
Known GenesMAGI2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5477099
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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