A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4528496



Internal ID20258615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9290403..9461404hg38UCSC Ensembl
chr12:9442999..9614000hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38171002
hg19171002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15949093
Samples
Known GenesDDX12P, LOC642846
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)nsv4528496
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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