A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5952276



Internal ID22727593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:48758745..48761142hg38UCSC Ensembl
chr20:47375282..47377679hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg382398
hg192398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17390296
Samples
Known GenesPREX1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5952276
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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