A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4559047



Internal ID19942243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40484203..40484204hg38UCSC Ensembl
chr1:40949875..40949876hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38424
hg19424
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16022174
Samples
Known GenesZFP69
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)nsv4559047
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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