A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4339388



Internal ID20187080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39470315..39486209hg38UCSC Ensembl
chr8:39327834..39343728hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg3815895
hg1915895
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15791349
Samples
Known GenesADAM3A
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)nsv4339388
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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