A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16070940



Internal ID19796194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:110627221..110627222hg38UCSC Ensembl
chr6:110948424..110948425hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4479250
Supporting Variants
Samples
Known GenesCDK19
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)nssv16070940
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.041994


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