A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15983252



Internal ID20055192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152055057..152582869hg38UCSC Ensembl
chr7:151752142..152279954hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38527813
hg19527813
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4172416
Supporting Variants
Samples
Known GenesFABP5P3, GALNT11, KMT2C, LINC01003
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)nssv15983252
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000369


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