A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433765



Internal ID212467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42152650..42152650hg38UCSC Ensembl
chr13:42726786..42726786hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687206
Samples
Known GenesDGKH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433765
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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