A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4253795



Internal ID20446756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44615022..44621051hg38UCSC Ensembl
chr19:45118332..45124349hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg386030
hg196018
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15961844
Samples
Known GenesIGSF23
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)nsv4253795
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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