A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17379319



Internal ID22437189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84010943..84093761hg38UCSC Ensembl
chr16:84044548..84127366hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3882819
hg1982819
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5935358
Supporting Variants
Samples
Known GenesMBTPS1, SLC38A8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17379319
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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