A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4099831



Internal ID20336918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197874682..198176462hg38UCSC Ensembl
chr3:197601553..197903333hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38301781
hg19301781
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15970563
Samples
Known GenesANKRD18DP, FAM157A, IQCG, LMLN, RPL35A
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)nsv4099831
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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