A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4069551



Internal ID19967896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225888398..225889015hg38UCSC Ensembl
chr1:226076098..226076715hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38618
hg19618
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15847046
Samples
Known GenesLEFTY1
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)nsv4069551
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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