A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16039026



Internal ID19764280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:154722172..154722173hg38UCSC Ensembl
chr2:155578684..155578685hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4463894
Supporting Variants
Samples
Known GenesKCNJ3
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)nssv16039026
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000645


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