A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5416247



Internal ID195482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:32313609..32313660hg38UCSC Ensembl
chr21:33685920..33685971hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17734694
Samples
Known GenesMRAP, URB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5416247
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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