A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15974931



Internal ID19700185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:76004668..76039802hg38UCSC Ensembl
chr4:76925821..76960955hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg3835135
hg1935135
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4109281
Supporting Variants
Samples
Known GenesART3, CXCL10, CXCL11, CXCL9
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)nssv15974931
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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