A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4191200



Internal ID20402783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:128655314..128678911hg38UCSC Ensembl
chr9:131417593..131441190hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3823598
hg1923598
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15987220
Samples
Known GenesWDR34
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)nsv4191200
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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