A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16065113



Internal ID19790367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:161879630..161879631hg38UCSC Ensembl
chr5:161306636..161306637hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4487997
Supporting Variants
Samples
Known GenesGABRA1
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)nssv16065113
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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