A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15948650



Internal ID19673904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68814220..68854620hg38UCSC Ensembl
chr12:69208000..69248400hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3840401
hg1940401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4211342
Supporting Variants
Samples
Known GenesCPM, MDM2
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)nssv15948650
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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