A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4199731



Internal ID20062288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67577616..67989513hg38UCSC Ensembl
chr11:67345087..67756984hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38411898
hg19411898
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15947424
Samples
Known GenesACY3, ALDH3B2, DOC2GP, FAM86C2P, GSTP1, NDUFV1, 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 ID12345678
Accession Number(s)nsv4199731
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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