A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16972962



Internal ID49345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115620683..115625598hg38UCSC Ensembl
chr5:114956380..114961295hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg384916
hg194916
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5460070
Supporting Variants
Samples
Known GenesTMED7, TMED7-TICAM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16972962
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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