A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4486606



Internal ID19869958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:116125594..116125595hg38UCSC Ensembl
chr6:116446757..116446758hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16070660
Samples
Known GenesCOL10A1, NT5DC1
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)nsv4486606
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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