A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15953165



Internal ID19678419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56209093..56232456hg38UCSC Ensembl
chr12:56602877..56626240hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3823364
hg1923364
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4204018
Supporting Variants
Samples
Known GenesNABP2, RNF41, SLC39A5
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)nssv15953165
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