A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4243511



Internal ID20093139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:66573879..66588870hg38UCSC Ensembl
chr16:66607782..66622773hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3814992
hg1914992
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15954927
Samples
Known GenesCKLF-CMTM1, CMTM1, CMTM2
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)nsv4243511
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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