A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4207941



Internal ID20414924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:43897532..43897628hg38UCSC Ensembl
chr11:43919082..43919178hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15950304
Samples
Known GenesALKBH3, SEC14L1P1
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)nsv4207941
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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