A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15854439



Internal ID19926379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:153542892..153547805hg38UCSC Ensembl
chr1:153515368..153520281hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg384914
hg194914
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4059943
Supporting Variants
Samples
Known GenesS100A3, S100A4
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)nssv15854439
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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