A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4323294



Internal ID19838466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:62449536..63818889hg38UCSC Ensembl
chr12:62843316..64212669hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg381369354
hg191369354
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16090793
Samples
Known GenesAVPR1A, C12orf61, DPY19L2, MIRLET7I, MON2, PPM1H, TMEM5
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)nsv4323294
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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