A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5488416



Internal ID265728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:103974051..103982144hg38UCSC Ensembl
chr7:103614498..103622591hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg388094
hg198094
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17000830
Samples
Known GenesRELN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5488416
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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