A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16041590



Internal ID20113546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178641818..178641819hg38UCSC Ensembl
chr2:179506545..179506546hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38938
hg19938
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4557903
Supporting Variants
Samples
Known GenesMIR548N, TTN
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)nssv16041590
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