A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507555



Internal ID284270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:75331444..75331972hg38UCSC Ensembl
chr11:75042488..75043016hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38529
hg19529
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17047209
Samples
Known GenesARRB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507555
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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