A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16053433



Internal ID20125389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:7040912..7040913hg38UCSC Ensembl
chr4:7042639..7042640hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4475913
Supporting Variants
Samples
Known GenesCCDC96, LOC100129931
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)nssv16053433
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.008302


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