A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4271238



Internal ID20458961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:38601518..38604503hg38UCSC Ensembl
chr17:36757771..36760756hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg382986
hg192986
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15958908
Samples
Known GenesSRCIN1
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)nsv4271238
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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