A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17400545



Internal ID22458415
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 StatusS
Merged Variantsnsv5928279
Supporting Variants
Samples
Known GenesMBOAT7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17400545
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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