A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15978688



Internal ID19703942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:104854669..104880718hg38UCSC Ensembl
chr6:105302544..105328593hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg3826050
hg1926050
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4138391
Supporting Variants
Samples
Known GenesHACE1
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)nssv15978688
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000184


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