A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16091067



Internal ID19816328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:61411826..63137749hg38UCSC Ensembl
chr16:61445730..63171653hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg381725924
hg191725924
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4324002
Supporting Variants
Samples
Known GenesCDH8
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)nssv16091067
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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