A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4035142



Internal ID20165406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:65549317..65559317hg38UCSC Ensembl
chr1:66015000..66025000hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3810001
hg1910001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15850887
Samples
Known GenesLEPR
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)nsv4035142
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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