A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4189644



Internal ID20401677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:135702454..135703917hg38UCSC Ensembl
chr9:138594300..138595763hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg381464
hg191464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15939872
Samples
Known GenesKCNT1
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)nsv4189644
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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