A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16068315



Internal ID19793569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:72637290..72637291hg38UCSC Ensembl
chr6:73347018..73347019hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg383861
hg193861
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4568102
Supporting Variants
Samples
Known GenesKCNQ5
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)nssv16068315
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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