A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16073957



Internal ID20145913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:40781465..40781466hg38UCSC Ensembl
chr7:40821064..40821065hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38478
hg19478
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4539609
Supporting Variants
Samples
Known GenesC7orf10
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)nssv16073957
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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