A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15982975



Internal ID20054915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:158317002..158602896hg38UCSC Ensembl
chr7:158109694..158395588hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38285895
hg19285895
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4166151
Supporting Variants
Samples
Known GenesMIR5707, MIR595, PTPRN2
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)nssv15982975
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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