A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4566273



Internal ID19949473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:173533981..173533982hg38UCSC Ensembl
chr1:173503120..173503121hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38686
hg19686
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16029170
Samples
Known GenesSLC9C2
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)nsv4566273
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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