A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4532934



Internal ID20263048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:178149423..178149424hg38UCSC Ensembl
chr1:178118558..178118559hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg381236
hg191236
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16026592
Samples
Known GenesRASAL2
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)nsv4532934
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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