A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15955198



Internal ID20027138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:97723222..97728222hg38UCSC Ensembl
chr12:98117000..98122000hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg385001
hg195001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4215163
Supporting Variants
Samples
Known GenesLOC643711
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)nssv15955198
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.005024


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