A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553330



Internal ID326587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:129837188..129837188hg38UCSC Ensembl
chr11:129707083..129707083hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg38232
hg19232
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17052677
Samples
Known GenesTMEM45B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553330
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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