A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15849446



Internal ID19574774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:31196141..31201051hg38UCSC Ensembl
chr1:31668988..31673898hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg384911
hg194911
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4048243
Supporting Variants
Samples
Known GenesNKAIN1
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)nssv15849446
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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