A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4196912



Internal ID20060247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62641146..62672246hg38UCSC Ensembl
chr11:62408618..62439718hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg3831101
hg1931101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15947342
Samples
Known GenesC11orf48, C11orf83, GANAB, INTS5, LOC102288414, METTL12, SNORA57
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)nsv4196912
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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