A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15908719



Internal ID19633973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:57018805..57023533hg38UCSC Ensembl
chr6:56883603..56888331hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg384729
hg194729
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4146876
Supporting Variants
Samples
Known GenesBEND6
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)nssv15908719
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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