A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4078052



Internal ID19974150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:165747521..165759026hg38UCSC Ensembl
chr2:166604031..166615536hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3811506
hg1911506
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15873005
Samples
Known GenesGALNT3
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)nsv4078052
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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