A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16949522



Internal ID33695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:67912492..67912597hg38UCSC Ensembl
chr4:68778210..68778315hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5466018
Supporting Variants
Samples
Known GenesTMPRSS11A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16949522
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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