A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4560503



Internal ID19943700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:410443..601555hg38UCSC Ensembl
chr12:519609..710721hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38191113
hg19191113
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15787682
Samples
Known GenesB4GALNT3, CCDC77, NINJ2
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 ID12345678
Accession Number(s)nsv4560503
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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