A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4334900



Internal ID19839522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:11909006..12109821hg38UCSC Ensembl
chr17:11812323..12013138hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38200816
hg19200816
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv960n166
Supporting Variantsnssv15788474
Samples
Known GenesDNAH9, MAP2K4, MIR744, ZNF18
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)nsv4334900
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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