A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15930688



Internal ID20002628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:91103277..91173399hg38UCSC Ensembl
chr8:92115505..92185627hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3870123
hg1970123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4163191
Supporting Variants
Samples
Known GenesLRRC69
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 ID32461652
Accession Number(s)nssv15930688
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.003411


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