A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4219988



Internal ID20423556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88316916..88322840hg38UCSC Ensembl
chr14:88783260..88789184hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg385925
hg195925
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15952548
Samples
Known GenesKCNK10
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 ID32461652
Accession Number(s)nsv4219988
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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