A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4460047



Internal ID20189955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196227085..196227086hg38UCSC Ensembl
chr1:196196215..196196216hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16030015
Samples
Known GenesKCNT2
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)nsv4460047
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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