A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15955804



Internal ID20027744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121478803..121490802hg38UCSC Ensembl
chr12:121916606..121928605hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3812000
hg1912000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4213448
Supporting Variants
Samples
Known GenesKDM2B
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)nssv15955804
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000277


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