A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4033012



Internal ID19817213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:257999..289549hg38UCSC Ensembl
chr1:227750..259300hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3831551
hg1931551
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15781042, nssv15781048, nssv15781044, nssv15781047, nssv15781046, nssv15781041, nssv15781045, nssv15781043
Samples
Known Genes
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)nsv4033012
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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