A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4567769



Internal ID19950967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179660897..179692723hg38UCSC Ensembl
chr5:179087898..179119724hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3831827
hg1931827
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15790709
Samples
Known GenesCBY3
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)nsv4567769
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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