A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4336932



Internal ID20186588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:29105663..29118189hg38UCSC Ensembl
chr8:28963180..28975706hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3812527
hg1912527
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15791326
Samples
Known GenesKIF13B
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4336932
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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