A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4156448



Internal ID20377759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:52345149..52345922hg38UCSC Ensembl
chr8:53257709..53258482hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38774
hg19774
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15927835
Samples
Known GenesST18
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)nsv4156448
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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