A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15981142



Internal ID19706396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:86876134..86884995hg38UCSC Ensembl
chr7:86505450..86514311hg19UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg388862
hg198862
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4138131
Supporting Variants
Samples
Known GenesKIAA1324L
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)nssv15981142
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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