A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496577



Internal ID273650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:20883122..21568664hg38UCSC Ensembl
chr11:20904668..21590210hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38685543
hg19685543
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17044815
Samples
Known GenesNELL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496577
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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