A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530926



Internal ID306894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:38918552..38972810hg38UCSC Ensembl
chr20:37547195..37601453hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg3854259
hg1954259
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732336
Samples
Known GenesDHX35, FAM83D, PPP1R16B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530926
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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