A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15788530



Internal ID19513885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44952950..44967261hg38UCSC Ensembl
chr17:43030318..43044629hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3814312
hg1914312
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4337950
Supporting Variants
Samples
Known GenesC1QL1
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)nssv15788530
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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