A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15802105



Internal ID19874191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:77769214..77804388hg38UCSC Ensembl
chr11:77480259..77515434hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg3835175
hg1935176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4194459
Supporting Variants
Samples
Known GenesRSF1
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)nssv15802105
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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