A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4131436



Internal ID20359652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:26369272..26405772hg38UCSC Ensembl
chr6:26369500..26406000hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg3836501
hg1936501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15978321
Samples
Known GenesBTN2A2, BTN3A1, BTN3A2
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)nsv4131436
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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