A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15789745



Internal ID19515111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218780865..219109739hg38UCSC Ensembl
chr2:219645588..219974461hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38328875
hg19328874
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4341054
Supporting Variants
Samples
Known GenesCCDC108, CDK5R2, CRYBA2, CYP27A1, FEV, IHH, LINC00608, LOC100129175, MIR3131, MIR375, NHEJ1, PRKAG3, WNT10A, WNT6
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)nssv15789745
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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