A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4182048



Internal ID20396238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:136782548..136802548hg38UCSC Ensembl
chr9:139677000..139697000hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3820001
hg1920001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15987351
Samples
Known GenesCCDC183, TMEM141
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)nsv4182048
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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