A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16025138



Internal ID20097094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93899064..93899065hg38UCSC Ensembl
chr1:94364620..94364621hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4571611
Supporting Variants
Samples
Known GenesGCLM
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)nssv16025138
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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