A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16018821



Internal ID20090777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75403818..75403819hg38UCSC Ensembl
chr17:73399899..73399900hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381311
hg191311
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4576719
Supporting Variants
Samples
Known GenesGRB2
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)nssv16018821
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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