A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543409



Internal ID317663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:29009646..29034605hg38UCSC Ensembl
chr21:30381967..30406926hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg3824960
hg1924960
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726500
Samples
Known GenesRWDD2B, USP16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543409
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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