A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4329748



Internal ID19838878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11255910..17864916hg38UCSC Ensembl
chr12:11408826..18017850hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg386609007
hg196609025
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16090775
Samples
Known GenesAPOLD1, ARHGDIB, ART4, ATF7IP, BCL2L14, C12orf36, C12orf60, CDKN1B, CREBL2, DDX47, DERA, DUSP16, EMP1, EPS8, ERP27, ETV6, GPR19, GPRC5A, GPRC5D, GRIN2B, GSG1, GUCY2C, H2AFJ, HEBP1, HIST4H4, HTR7P1, KIAA1467, LMO3, LOC100506314, LOC338817, LOH12CR1, LOH12CR2, LRP6, MANSC1, MGP, MGST1, MIR1244-1, MIR1244-2, MIR1244-3, MIR3974, MIR613, MIR614, PDE6H, PLBD1, PRB1, PRB2, PRB3, PRB4, PTPRO, RERG, RERG-AS1, RNU6-19P, RPL13AP20, SKP1P2, SLC15A5, SMCO3, STRAP, WBP11
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)nsv4329748
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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