A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5542356



Internal ID316783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:67826316..67826366hg38UCSC Ensembl
chr4:68692034..68692084hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16949516
Samples
Known GenesTMPRSS11D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5542356
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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