A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423509



Internal ID202526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37227197..37227248hg38UCSC Ensembl
chr21:38599498..38599549hg19UCSC Ensembl
Cytoband21q22.13
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 Variantsnssv17734761
Samples
Known GenesDSCR3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423509
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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