A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15997592



Internal ID20069548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:106766501..106766502hg38UCSC Ensembl
chr11:106637227..106637228hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4508463
Supporting Variants
Samples
Known GenesGUCY1A2
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)nssv15997592
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000138


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