A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4247487



Internal ID20442501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:15775643..15956143hg38UCSC Ensembl
chr16:15869500..16050000hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38180501
hg19180501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15954816
Samples
Known GenesABCC1, FOPNL, MYH11
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)nsv4247487
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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