A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4567455



Internal ID19950654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46053102..46427687hg38UCSC Ensembl
chr3:46094594..46469178hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38374586
hg19374585
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15790086
Samples
Known GenesCCR1, CCR2, CCR3, CCR5, CCRL2
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4567455
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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