A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4042327



Internal ID19823748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:37925081..37966093hg38UCSC Ensembl
chr1:38390753..38431765hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3841013
hg1941013
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15962709
Samples
Known GenesINPP5B, SF3A3
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)nsv4042327
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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