A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4064647



Internal ID20311037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111755107..111755186hg38UCSC Ensembl
chr1:112297729..112297808hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15961961
Samples
Known GenesFAM212B
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)nsv4064647
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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