A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517892



Internal ID294295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:17564963..17587346hg38UCSC Ensembl
chr20:17545608..17567991hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3822384
hg1922384
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17731315
Samples
Known GenesBFSP1, DSTN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517892
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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