A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16050467



Internal ID20122423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:127777012..127777013hg38UCSC Ensembl
chr3:127495855..127495856hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4555270
Supporting Variants
Samples
Known GenesMGLL
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)nssv16050467
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.012042


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