A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4337578



Internal ID20186716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:34097872..34108195hg38UCSC Ensembl
chr17:32424891..32435214hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3810324
hg1910324
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15788510
Samples
Known GenesASIC2
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 ID32461652
Accession Number(s)nsv4337578
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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