A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944278



Internal ID22719740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:53531266..53539814hg38UCSC Ensembl
chr13:54105401..54113949hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg388549
hg198549
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17382876
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944278
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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