A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4153368



Internal ID20375516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148595585..148595674hg38UCSC Ensembl
chr7:148292677..148292766hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15981524
Samples
Known GenesC7orf33
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)nsv4153368
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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