A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15970316



Internal ID20042256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:128241426..128346426hg38UCSC Ensembl
chr2:128999000..129104000hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38105001
hg19105001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4080682
Supporting Variants
Samples
Known GenesHS6ST1
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)nssv15970316
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000095


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