A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5539165



Internal ID314147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:31373017..31392532hg38UCSC Ensembl
chr21:32745332..32764845hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3819516
hg1919514
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726591
Samples
Known GenesTIAM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5539165
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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