A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15969339



Internal ID19694593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177209772..177214872hg38UCSC Ensembl
chr2:178074500..178079600hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg385101
hg195101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4082470
Supporting Variants
Samples
Known GenesHNRNPA3, MIR4444-1
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)nssv15969339
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.007337


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