A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4528491



Internal ID19911921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:112024740..112143164hg38UCSC Ensembl
chr11:111895464..112013887hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg38118425
hg19118424
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15951168
Samples
Known GenesC11orf57, DLAT, PIH1D2, SDHD, TIMM8B
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)nsv4528491
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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