A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16046226



Internal ID19771480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:44980059..44980060hg38UCSC Ensembl
chr3:45021551..45021552hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4548933
Supporting Variants
Samples
Known GenesEXOSC7
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)nssv16046226
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000877


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