A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516775



Internal ID293223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:789625..977351hg38UCSC Ensembl
chr20:770268..957994hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38187727
hg19187727
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17730215
Samples
Known GenesANGPT4, FAM110A, RSPO4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516775
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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