A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4257508



Internal ID20102662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:57662149..57967325hg38UCSC Ensembl
chr19:58173517..58478693hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38305177
hg19305177
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15962670
Samples
Known GenesC19orf18, FKBP1AP1, ZNF154, ZNF256, ZNF417, ZNF418, ZNF551, ZNF552, ZNF586, ZNF587, ZNF587B, ZNF671, ZNF776, ZNF814, ZSCAN4
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)nsv4257508
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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