A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16024139



Internal ID19749393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:75146820..75146821hg38UCSC Ensembl
chr1:75612505..75612506hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38544
hg19544
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4564573
Supporting Variants
Samples
Known GenesLHX8
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)nssv16024139
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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