A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530305



Internal ID306295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:23751162..23826964hg38UCSC Ensembl
chr20:23731799..23807601hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg3875803
hg1975803
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17731641
Samples
Known GenesCST2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530305
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer