A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15961938



Internal ID19687192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109206267..109216003hg38UCSC Ensembl
chr1:109748889..109758625hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg389737
hg199737
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4059698
Supporting Variants
Samples
Known GenesKIAA1324, SARS
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 ID12345678
Accession Number(s)nssv15961938
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00106


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