A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16024182



Internal ID20096138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39888757..39888758hg38UCSC Ensembl
chr1:40354429..40354430hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4534020
Supporting Variants
Samples
Known Genes
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)nssv16024182
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.14028


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