A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4227745



Internal ID20082341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112597040..113826563hg38UCSC Ensembl
chr13:113251354..114529536hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381229524
hg191278183
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15951968
Samples
Known GenesADPRHL1, ATP11A, ATP4B, C13orf35, CUL4A, DCUN1D2, F10, F7, GAS6, GAS6-AS1, GRK1, GRTP1, LAMP1, LINC00552, MCF2L, MCF2L-AS1, MIR8075, PCID2, PROZ, TFDP1, TMCO3, TMEM255B
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)nsv4227745
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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