A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4252960



Internal ID20446169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44971049..44972416hg38UCSC Ensembl
chr19:45474306..45475673hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381368
hg191368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15846397
Samples
Known GenesCLPTM1
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)nsv4252960
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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