A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4539148



Internal ID20269023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88490976..88490977hg38UCSC Ensembl
chr16:88557384..88557385hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16014976
Samples
Known GenesZFPM1
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)nsv4539148
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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