A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4137495



Internal ID20017322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:109011267..109015105hg38UCSC Ensembl
chr6:109332470..109336308hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg383839
hg193839
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15912981
Samples
Known GenesSESN1
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)nsv4137495
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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