A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16025593



Internal ID20097549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:86975684..86975685hg38UCSC Ensembl
chr1:87441367..87441368hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg381267
hg191267
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4534688
Supporting Variants
Samples
Known GenesHS2ST1
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)nssv16025593
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000415


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