A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5971818



Internal ID22746753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42432405..42432405hg38UCSC Ensembl
chr21:43852514..43852514hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38202
hg19202
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17405740
Samples
Known GenesUBASH3A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5971818
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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