A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16004697



Internal ID20076653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:51011858..51011859hg38UCSC Ensembl
chr13:51585994..51585995hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4503380
Supporting Variants
Samples
Known GenesGUCY1B2
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)nssv16004697
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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