A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4344602



Internal ID19841383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:97770297..97773895hg38UCSC Ensembl
chr10:99530054..99533652hg19UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg383599
hg193599
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15787424
Samples
Known GenesSFRP5
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4344602
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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