A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548213



Internal ID321989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:29435831..29435856hg38UCSC Ensembl
chr21:30808151..30808176hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726522
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548213
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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