A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15789080



Internal ID19514443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:19687247..19698198hg38UCSC Ensembl
chr1:20013740..20024691hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3810952
hg1910952
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4318930
Supporting Variants
Samples
Known GenesTMCO4
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)nssv15789080
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000092


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