A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4555597



Internal ID20285472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132998904..132998905hg38UCSC Ensembl
chr5:132334596..132334597hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16064784
Samples
Known GenesZCCHC10
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)nsv4555597
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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