A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4341303



Internal ID19840779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41488474..41630650hg38UCSC Ensembl
chr17:39644726..39786902hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38142177
hg19142177
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15788521
Samples
Known GenesKRT13, KRT14, KRT15, KRT16, KRT17, KRT19, KRT36, KRT42P, KRT9, LINC00974, MIR6510
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)nsv4341303
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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