A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4232376



Internal ID20085703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129071781..129072948hg38UCSC Ensembl
chr12:129556326..129557493hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381168
hg191168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15812138
Samples
Known GenesTMEM132D
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 ID12345678
Accession Number(s)nsv4232376
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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