A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553107



Internal ID326387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:32671949..32758884hg38UCSC Ensembl
chr21:34044259..34131195hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3886936
hg1986937
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726620
Samples
Known GenesPAXBP1, PAXBP1-AS1, SYNJ1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553107
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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