A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4041420



Internal ID20169775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70670691..70963531hg38UCSC Ensembl
chr1:71136374..71429214hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38292841
hg19292841
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15963450
Samples
Known GenesPTGER3
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)nsv4041420
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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