A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4319008



Internal ID19838189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:15984317..16189120hg38UCSC Ensembl
chr1:16310812..16515615hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38204804
hg19204804
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15789037
Samples
Known GenesC1orf64, CLCNKA, CLCNKB, EPHA2, FAM131C, HSPB7
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4319008
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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