A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16044951



Internal ID20116907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52853774..52853775hg38UCSC Ensembl
chr3:52887790..52887791hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38511
hg19511
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4567497
Supporting Variants
Samples
Known GenesTMEM110, TMEM110-MUSTN1
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nssv16044951
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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