A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4063628



Internal ID20310313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206536795..206581480hg38UCSC Ensembl
chr1:206710124..206754812hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3844686
hg1944689
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15847599
Samples
Known GenesRASSF5
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)nsv4063628
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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