A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5492879



Internal ID270078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:105123154..105514203hg38UCSC Ensembl
chr7:104763601..105154650hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg38391050
hg19391050
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17003078
Samples
Known GenesPUS7, SRPK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5492879
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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