A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16063740



Internal ID19788994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:133975402..133975403hg38UCSC Ensembl
chr5:133311093..133311094hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38179
hg19179
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4569715
Supporting Variants
Samples
Known GenesVDAC1
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)nssv16063740
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer