A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15949467



Internal ID20021407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117792899..117794085hg38UCSC Ensembl
chr12:118230704..118231890hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg381187
hg191187
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4529519
Supporting Variants
Samples
Known GenesKSR2
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)nssv15949467
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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