A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4143439



Internal ID20368320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:9557375..10649173hg38UCSC Ensembl
chr7:9597005..10688800hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg381091799
hg191091796
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2299n166
Supporting Variantsnssv15980305
Samples
Known GenesPER4
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)nsv4143439
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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