A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4257103



Internal ID20102373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:73197731..73198634hg38UCSC Ensembl
chr17:71193870..71194773hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38904
hg19904
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15836862
Samples
Known GenesCOG1
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)nsv4257103
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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