A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15966175



Internal ID19691429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:31135153..31183253hg38UCSC Ensembl
chr1:31608000..31656100hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg3848101
hg1948101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4050033
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)nssv15966175
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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