A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4159911



Internal ID20380287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:140509460..140534229hg38UCSC Ensembl
chr7:140209260..140234029hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3824770
hg1924770
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15982010
Samples
Known GenesDENND2A
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)nsv4159911
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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