A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4162632



Internal ID20382256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:143723907..143742907hg38UCSC Ensembl
chr7:143421000..143440000hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3819001
hg1919001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15982045
Samples
Known GenesFAM115C
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)nsv4162632
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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