A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5946579



Internal ID22722072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:13108464..13108780hg38UCSC Ensembl
chr19:13219278..13219594hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401784
Samples
Known GenesTRMT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5946579
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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