A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5614793



Internal ID21563098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68242306..68242306hg38UCSC Ensembl
chr4:69108024..69108024hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17135800
SamplesHG03486
Known GenesTMPRSS11B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5614793
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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