A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4261568



Internal ID20452197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:37218724..37221049hg38UCSC Ensembl
chr18:34798687..34801012hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg382326
hg192326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15839066
Samples
Known GenesKIAA1328
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)nsv4261568
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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