A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15963333



Internal ID19688588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152675695..153317474hg38UCSC Ensembl
chr1:152648171..153289950hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38641780
hg19641780
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4518402
Supporting Variants
Samples
Known GenesC1orf68, IVL, KPRP, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE4A, LCE6A, LELP1, LOR, PGLYRP3, PRR9, SMCP, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2C, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4
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 ID12345678
Accession Number(s)nssv15963333
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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