A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4573675



Internal ID20303550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12177815..12177816hg38UCSC Ensembl
chr12:12330749..12330750hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38347
hg19347
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15999153
Samples
Known GenesLRP6
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)nsv4573675
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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