A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15787747



Internal ID19859775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31899221..31976053hg38UCSC Ensembl
chr12:32052155..32128987hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3876833
hg1976833
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4562859
Supporting Variants
Samples
Known GenesKIAA1551
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nssv15787747
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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