A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4574442



Internal ID19957631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:66564323..66564324hg38UCSC Ensembl
chr16:66598226..66598227hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38397
hg19397
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16012989
Samples
Known GenesCKLF, CKLF-CMTM1
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)nsv4574442
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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