A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5515987



Internal ID292457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:327330..327390hg38UCSC Ensembl
chr20:307974..308034hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17730172
Samples
Known GenesSOX12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5515987
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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