A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4065763



Internal ID20311838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:195657948..196580323hg38UCSC Ensembl
chr1:195627078..196549453hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38922376
hg19922376
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15846651
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)nsv4065763
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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