A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554378



Internal ID327568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:129433457..129433508hg38UCSC Ensembl
chr11:129303352..129303403hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17052653
Samples
Known GenesBARX2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554378
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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