A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4533463



Internal ID19916879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93478936..93478937hg38UCSC Ensembl
chr1:93944493..93944494hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38220
hg19220
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16025122
Samples
Known GenesFNBP1L
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 ID12345678
Accession Number(s)nsv4533463
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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