A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512541



Internal ID289092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:78525196..78659632hg38UCSC Ensembl
chr11:78236242..78370677hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38134437
hg19134436
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17048628
Samples
Known GenesNARS2, TENM4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512541
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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