A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4135593



Internal ID20362627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:69739907..69770398hg38UCSC Ensembl
chr7:69204893..69235384hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg3830492
hg1930492
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15980998
Samples
Known GenesAUTS2
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)nsv4135593
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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