A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457239



Internal ID235289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:2921659..3279708hg38UCSC Ensembl
chr7:2961293..3319340hg19UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg38358050
hg19358048
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16992364
Samples
Known GenesCARD11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457239
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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