A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5404080



Internal ID183438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:100502029..100502048hg38UCSC Ensembl
chr9:103264311..103264330hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17025017
Samples
Known GenesMSANTD3-TMEFF1, TMEFF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5404080
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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