A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498423



Internal ID275413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:83269377..83271656hg38UCSC Ensembl
chr11:82980419..82982698hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg382280
hg192280
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17048427
Samples
Known GenesCCDC90B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498423
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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