A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17544671



Internal ID21869026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115616449..115620435hg38UCSC Ensembl
chr5:114952146..114956132hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg383987
hg193987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6010152
Supporting Variants
Samples
Known GenesTMED7, TMED7-TICAM2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17544671
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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