A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4217903



Internal ID20075382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:85931652..86068212hg38UCSC Ensembl
chr12:86325431..86461990hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38136561
hg19136560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15812507
Samples
Known GenesMGAT4C
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)nsv4217903
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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