A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5928279



Internal ID22703516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54174622..54174732hg38UCSC Ensembl
chr19:54678316..54678426hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17400545
Samples
Known GenesMBOAT7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5928279
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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