A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15953182



Internal ID19678436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57291065..57291187hg38UCSC Ensembl
chr12:57684848..57684970hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4210539
Supporting Variants
Samples
Known GenesR3HDM2
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)nssv15953182
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004432


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