A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16021915



Internal ID20093871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:76992533..76992534hg38UCSC Ensembl
chr18:74704489..74704490hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4319586
Supporting Variants
Samples
Known GenesMBP
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)nssv16021915
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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