A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4079060



Internal ID20321581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:108633893..111492183hg38UCSC Ensembl
chr3:108352740..111211030hg19UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg382858291
hg192858291
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15881478
Samples
Known GenesDPPA2, DPPA4, DZIP3, FLJ22763, FLJ25363, GUCA1C, LINC00488, MORC1, PVRL3, PVRL3-AS1, RETNLB, TRAT1
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)nsv4079060
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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