A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4036943



Internal ID20166679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54509686..54836923hg38UCSC Ensembl
chr1:54975359..55302596hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38327238
hg19327238
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15962537
Samples
Known GenesACOT11, C1orf177, FAM151A, MROH7, MROH7-TTC4, PARS2, TTC22, TTC4
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 ID32461652
Accession Number(s)nsv4036943
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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