A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4271308



Internal ID20112322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:61476454..61478583hg38UCSC Ensembl
chr17:59553815..59555944hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg382130
hg192130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15836694
Samples
Known GenesTBX4
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)nsv4271308
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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