A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4046138



Internal ID20173070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206052575..206058486hg38UCSC Ensembl
chr1:206282885..206288795hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg385912
hg195911
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15781340, nssv15781335, nssv15781337, nssv15781333, nssv15781339, nssv15781341, nssv15781334, nssv15781336, nssv15781338
Samples
Known GenesC1orf186
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)nsv4046138
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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