A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4257938



Internal ID20102962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60076885..60159094hg38UCSC Ensembl
chr17:58154246..58236455hg19UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg3882210
hg1982210
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15959579
Samples
Known GenesCA4, HEATR6, LOC645638, LOC653653
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
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4257938
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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