A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15788088



Internal ID19513436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:20775659..20981672hg38UCSC Ensembl
chr14:21243818..21449831hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38206014
hg19206014
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4566240
Supporting Variants
Samples
Known GenesECRP, RNASE1, RNASE2, RNASE3, RNASE6
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv15788088
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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