A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4244553



Internal ID20093838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:13854940..14081150hg38UCSC Ensembl
chr16:13948797..14175007hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg38226211
hg19226211
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15957197
Samples
Known GenesERCC4, MKL2
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)nsv4244553
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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