A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15907856



Internal ID19633110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:26238906..26240959hg38UCSC Ensembl
chr6:26239134..26241187hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg382054
hg192054
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4117357
Supporting Variants
Samples
Known GenesHIST1H4F
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)nssv15907856
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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