A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4570455



Internal ID19953650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62427473..62732601hg38UCSC Ensembl
chr11:62194945..62500073hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg38305129
hg19305129
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15787571
Samples
Known GenesAHNAK, B3GAT3, BSCL2, C11orf48, C11orf83, EEF1G, EML3, GANAB, GNG3, HNRNPUL2, HNRNPUL2-BSCL2, INTS5, LOC102288414, LRRN4CL, METTL12, MIR3654, MIR6747, MTA2, ROM1, SNORA57, TTC9C, TUT1, UBXN1
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4570455
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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