A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15985342



Internal ID19710596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:19145001..19261002hg38UCSC Ensembl
chr9:19144999..19261000hg19UCSC Ensembl
Cytoband9p22.1
Allele length
AssemblyAllele length
hg38116002
hg19116002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4525948
Supporting Variants
Samples
Known GenesDENND4C
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)nssv15985342
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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