A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5532283



Internal ID308209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:36801716..36878340hg38UCSC Ensembl
chr20:35430119..35506743hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg3876625
hg1976625
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732217
Samples
Known GenesSOGA1, TLDC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5532283
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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