A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15790729



Internal ID19862794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:7834630..7842863hg38UCSC Ensembl
chr6:7834863..7843096hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg388234
hg198234
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4345540
Supporting Variants
Samples
Known GenesBMP6
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 ID32461652
Accession Number(s)nssv15790729
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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