A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430514



Internal ID209320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:32738413..32738464hg38UCSC Ensembl
chr21:34110724..34110775hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726623
Samples
Known GenesPAXBP1, PAXBP1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430514
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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