A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15980796



Internal ID19706050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:17821383..18325076hg38UCSC Ensembl
chr7:17861006..18364699hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg38503694
hg19503694
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4148795
Supporting Variants
Samples
Known GenesHDAC9, PRPS1L1, SNX13
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)nssv15980796
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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