A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4551733



Internal ID20281608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:6505193..6505194hg38UCSC Ensembl
chr17:6408513..6408514hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16016403
Samples
Known GenesPITPNM3
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)nsv4551733
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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