A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421825



Internal ID200887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:71768553..71768604hg38UCSC Ensembl
chr13:72342685..72342736hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690936
Samples
Known GenesDACH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421825
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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