A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4195592



Internal ID20059291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:61725871..61855689hg38UCSC Ensembl
chr11:61493343..61623161hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38129819
hg19129819
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15951028
Samples
Known GenesDAGLA, DKFZP434K028, FADS1, FADS2, FEN1, MIR1908, MIR611, MYRF, TMEM258
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)nsv4195592
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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