A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15910416



Internal ID19635670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:47861264..47874264hg38UCSC Ensembl
chr6:47829000..47842000hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3813001
hg1913001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4139785
Supporting Variants
Samples
Known Genes
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)nssv15910416
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000049


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