A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500839



Internal ID277762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:129745571..129826276hg38UCSC Ensembl
chr11:129615466..129696171hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg3880706
hg1980706
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17052671
Samples
Known GenesTMEM45B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500839
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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