A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16077131



Internal ID19802388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:104338688..104338689hg38UCSC Ensembl
chr7:103979136..103979137hg19UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4483299
Supporting Variants
Samples
Known GenesLHFPL3
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)nssv16077131
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001014


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