A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15979875



Internal ID19705129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:2228509..2313419hg38UCSC Ensembl
chr7:2268144..2353054hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3884911
hg1984911
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4133635
Supporting Variants
Samples
Known GenesFTSJ2, MAD1L1, MIR6836, NUDT1, SNX8
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)nssv15979875
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000507


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