A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5943113



Internal ID22718557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:68396091..68396141hg38UCSC Ensembl
chr16:68429994..68430044hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17369893
Samples
Known GenesSMPD3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5943113
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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