A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4035808



Internal ID20165886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62862284..62901764hg38UCSC Ensembl
chr1:63327955..63367435hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3839481
hg1939481
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15961223
Samples
Known GenesATG4C
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)nsv4035808
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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