A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4034167



Internal ID20164714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27471062..27477709hg38UCSC Ensembl
chr1:27797573..27804220hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg386648
hg196648
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15965462
Samples
Known GenesWASF2
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)nsv4034167
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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