A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15973709



Internal ID19698963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:80172334..80414520hg38UCSC Ensembl
chr4:81093488..81335674hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg38242187
hg19242187
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4107976
Supporting Variants
Samples
Known GenesC4orf22, FGF5, PRDM8
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)nssv15973709
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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