A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514989



Internal ID291478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:33382547..33383458hg38UCSC Ensembl
chr20:31970353..31971264hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38912
hg19912
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732016
Samples
Known GenesCDK5RAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514989
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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