A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423633



Internal ID202649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83385181..83385232hg38UCSC Ensembl
chr16:83418786..83418837hg19UCSC Ensembl
Cytoband16q23.3
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 Variantsnssv17709644
Samples
Known GenesCDH13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423633
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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