A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5515064



Internal ID291551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:2481841..2481929hg38UCSC Ensembl
chr20:2462487..2462575hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17730326
Samples
Known GenesZNF343
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5515064
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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