A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4074167



Internal ID19971265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52090708..52095052hg38UCSC Ensembl
chr3:52124724..52129068hg19UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg384345
hg194345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15877895
Samples
Known GenesPOC1A
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)nsv4074167
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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