A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512136



Internal ID288702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29120080..29120309hg38UCSC Ensembl
chr13:29694217..29694446hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38230
hg19230
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17686519
Samples
Known GenesMTUS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512136
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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