A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4164273



Internal ID20036757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12928860..13038645hg38UCSC Ensembl
chr8:12786369..12896154hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38109786
hg19109786
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15928192
Samples
Known GenesKIAA1456
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)nsv4164273
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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