A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4151278



Internal ID20373991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:87354665..87387217hg38UCSC Ensembl
chr6:88064383..88096935hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg3832553
hg1932553
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15978168
Samples
Known GenesC6orf163
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)nsv4151278
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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