A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543852



Internal ID318071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:141383241..141383276hg38UCSC Ensembl
chr7:141083041..141083076hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17004429
Samples
Known GenesTMEM178B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543852
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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