A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15787318



Internal ID19512653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:27280592..27969469hg38UCSC Ensembl
chr10:27569521..28258398hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38688878
hg19688878
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4557830
Supporting Variants
Samples
Known GenesARMC4, MKX, PTCHD3, RAB18
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)nssv15787318
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.004226


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