A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540696



Internal ID315412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:31433336..31500638hg38UCSC Ensembl
chr21:32805649..32872951hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3867303
hg1967303
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17734645
Samples
Known GenesTIAM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540696
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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