A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4207922



Internal ID20414912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67617529..67710529hg38UCSC Ensembl
chr11:67385000..67478000hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg3893001
hg1993001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15947426
Samples
Known GenesACY3, ALDH3B2, NUDT8, TBX10
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)nsv4207922
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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