A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16063999



Internal ID19789253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112875748..112875749hg38UCSC Ensembl
chr5:112211445..112211446hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4485902
Supporting Variants
Samples
Known GenesSRP19
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 ID12345678
Accession Number(s)nssv16063999
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002725


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