A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15960463



Internal ID19685717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42432865..43325779hg38UCSC Ensembl
chr19:42937017..43829931hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38892915
hg19892915
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4259973
Supporting Variants
Samples
Known GenesCEACAM1, CEACAM8, CXCL17, LIPE-AS1, LOC100289650, LOC284344, PSG1, PSG10P, PSG11, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8, PSG9
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)nssv15960463
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000184


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