A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4234280



Internal ID20433646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:222209..446209hg38UCSC Ensembl
chr17:72000..296000hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38224001
hg19224001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15832283
Samples
Known GenesC17orf97, FAM101B, LOC100506388, RPH3AL
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 ID32461652
Accession Number(s)nsv4234280
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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