A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5483944



Internal ID261370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:68082783..68090234hg38UCSC Ensembl
chr7:67547770..67555221hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg387452
hg197452
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16997701
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5483944
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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