A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4075416



Internal ID20318887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:184861099..185115914hg38UCSC Ensembl
chr2:185725826..185980641hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38254816
hg19254816
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15970933
Samples
Known GenesZNF804A
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)nsv4075416
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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