A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15790506



Internal ID19515881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:53096090..53096091hg38UCSC Ensembl
chr5:52391920..52391921hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg382
hg192
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4572479
Supporting Variants
Samples
Known GenesMOCS2
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)nssv15790506
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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