A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15969228



Internal ID20041168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:119743486..120301833hg38UCSC Ensembl
chr2:120501062..121059409hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38558348
hg19558348
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4083410
Supporting Variants
Samples
Known GenesEPB41L5, PTPN4, RALB, TMEM185B
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)nssv15969228
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