A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15891966



Internal ID19617220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:77040426..77079132hg38UCSC Ensembl
chr4:77961579..78000285hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg3838707
hg1938707
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4096791
Supporting Variants
Samples
Known GenesCCNI
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)nssv15891966
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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