A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4330625



Internal ID19838947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:2515505..5510660hg38UCSC Ensembl
chr20:2496151..5491306hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg382995156
hg192995156
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16091261
Samples
Known GenesADAM33, ADRA1D, AP5S1, ATRN, AVP, C20orf141, C20orf194, C20orf27, CDC25B, CDS2, CENPB, CPXM1, DDRGK1, EBF4, FASTKD5, GFRA4, GNRH2, HSPA12B, IDH3B, ITPA, LINC00654, LINC00658, LOC643406, LOC728228, LZTS3, MAVS, MIR103A2, MIR103B2, MIR1292, MRPS26, NOP56, OXT, PANK2, PCED1A, PCNA, PCNA-AS1, PRND, PRNP, PRNT, PROKR2, PTPRA, RASSF2, RNF24, SIGLEC1, SLC23A2, SLC4A11, SMOX, SNORA51, SNORD110, SNORD56, SNORD57, SNORD86, SPEF1, TMC2, TMEM230, TMEM239, UBOX5, UBOX5-AS1, VPS16, ZNF343
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)nsv4330625
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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