A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15912896



Internal ID19638151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:107149796..107171796hg38UCSC Ensembl
chr6:107471000..107493000hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3822001
hg1922001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4134848
Supporting Variants
Samples
Known GenesPDSS2
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)nssv15912896
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000048


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