A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4151065



Internal ID20027156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:43936447..43936535hg38UCSC Ensembl
chr6:43904184..43904272hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15911298
Samples
Known GenesLOC100132354
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)nsv4151065
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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