A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5546349



Internal ID320309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:31351885..31352584hg38UCSC Ensembl
chr21:32724200..32724899hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38700
hg19700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726587
Samples
Known GenesTIAM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5546349
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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