A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16074046



Internal ID20146002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43217113..43217114hg38UCSC Ensembl
chr7:43256712..43256713hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg382093
hg192093
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4561854
Supporting Variants
Samples
Known GenesHECW1
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 ID32461652
Accession Number(s)nssv16074046
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.016988


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