A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4245485



Internal ID20441149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:18523678..18625078hg38UCSC Ensembl
chr16:18535000..18636400hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38101401
hg19101401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15955452
Samples
Known GenesABCC6P1, NOMO2
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)nsv4245485
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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