A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512460



Internal ID289012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:21448239..21462436hg38UCSC Ensembl
chr11:21469785..21483982hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3814198
hg1914198
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17041564
Samples
Known GenesNELL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512460
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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