A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504573



Internal ID281373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1454218..1454326hg38UCSC Ensembl
chr11:1475448..1475556hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17042072
Samples
Known GenesBRSK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504573
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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