A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15790080



Internal ID19515449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:43153163..43977279hg38UCSC Ensembl
chr3:43194655..44018771hg19UCSC Ensembl
Cytoband3p21.33
Allele length
AssemblyAllele length
hg38824117
hg19824117
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4340778
Supporting Variants
Samples
Known GenesABHD5, ANO10, SNRK, SNRK-AS1
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)nssv15790080
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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