A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519623



Internal ID295971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:19262913..19262981hg38UCSC Ensembl
chr20:19243557..19243625hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17731416
Samples
Known GenesLOC100130264, SLC24A3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519623
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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