A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4341937



Internal ID19840911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:79983331..80090316hg38UCSC Ensembl
chr17:77957130..78064115hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38106986
hg19106986
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15788580
Samples
Known GenesCCDC40, TBC1D16
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)nsv4341937
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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