A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5967492



Internal ID22742427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:33382899..33383457hg38UCSC Ensembl
chr20:31970705..31971263hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38559
hg19559
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17407858
Samples
Known GenesCDK5RAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5967492
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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