A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4251090



Internal ID20444893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:9116999..9216010hg38UCSC Ensembl
chr16:9210856..9309867hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3899012
hg1999012
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15954729
Samples
Known GenesC16orf72
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)nsv4251090
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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