A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5954861



Internal ID22730087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:44521454..44530700hg38UCSC Ensembl
chr20:43150095..43159341hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg389247
hg199247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17398061
Samples
Known GenesSERINC3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5954861
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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