A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4312591



Internal ID19837781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:96535277..101580741hg38UCSC Ensembl
chr2:97201014..102197203hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg385045465
hg194996190
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16091297
Samples
Known GenesACTR1B, AFF3, ANKRD23, ANKRD36, ANKRD36B, ANKRD39, ARID5A, C2orf15, CHST10, CNGA3, CNNM3, CNNM4, CNOT11, COA5, COX5B, CREG2, EIF5B, FAHD2B, FAM178B, FER1L5, INPP4A, KANSL3, KIAA1211L, LINC01104, LINC01125, LIPT1, LMAN2L, LOC100506076, LOC100506123, LONRF2, LYG1, LYG2, MGAT4A, MIR3127, MIR5696, MITD1, MRPL30, NMS, NPAS2, PDCL3, REV1, RFX8, RNF149, RPL31, SEMA4C, SNORD89, TBC1D8, TMEM131, TSGA10, TXNDC9, UNC50, VWA3B, ZAP70
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)nsv4312591
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer