A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4077181



Internal ID20320175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:101822296..101824257hg38UCSC Ensembl
chr3:101541140..101543101hg19UCSC Ensembl
Cytoband3q12.3
Allele length
AssemblyAllele length
hg381962
hg191962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15881288
Samples
Known GenesNXPE3
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)nsv4077181
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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