A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4154751



Internal ID20376541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39044874..39045484hg38UCSC Ensembl
chr8:38902393..38903003hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38611
hg19611
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2573n166
Supporting Variantsnssv15930557
Samples
Known GenesADAM9
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)nsv4154751
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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