A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15961248



Internal ID20033188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:65388049..65490411hg38UCSC Ensembl
chr1:65853732..65956094hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38102363
hg19102363
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4037833
Supporting Variants
Samples
Known GenesDNAJC6, LEPR, LEPROT
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)nssv15961248
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000138


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