A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15945245



Internal ID19670499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12860999..13090000hg38UCSC Ensembl
chr10:12902999..13132000hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38229002
hg19229002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4526597
Supporting Variants
Samples
Known GenesCCDC3
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)nssv15945245
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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