A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4076351



Internal ID19972872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:44769886..44770361hg38UCSC Ensembl
chr3:44811378..44811853hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38476
hg19476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15879991
Samples
Known GenesKIF15
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)nsv4076351
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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