A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15925664



Internal ID19997604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56314100..56317408hg38UCSC Ensembl
chr8:57226659..57229967hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg383309
hg193309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4168675
Supporting Variants
Samples
Known GenesSDR16C5
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)nssv15925664
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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