A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4163713



Internal ID20383043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:61600341..61616441hg38UCSC Ensembl
chr8:62512900..62529000hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg3816101
hg1916101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15983611
Samples
Known GenesASPH
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)nsv4163713
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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