A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5521467



Internal ID297762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:6049842..6049951hg38UCSC Ensembl
chr20:6030488..6030597hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17725914
Samples
Known GenesLRRN4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5521467
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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