A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514661



Internal ID291156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:17662570..17662767hg38UCSC Ensembl
chr20:17643215..17643412hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38198
hg19198
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17731317
Samples
Known GenesRRBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514661
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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