A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15951732



Internal ID19676986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:112978374..112978462hg38UCSC Ensembl
chr11:112849096..112849184hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4196747
Supporting Variants
Samples
Known GenesNCAM1
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)nssv15951732
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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