A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15958586



Internal ID20030526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1582120..2528622hg38UCSC Ensembl
chr17:1485414..2431916hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38946503
hg19946503
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4237808
Supporting Variants
Samples
Known GenesDPH1, HIC1, LOC284009, METTL16, MIR132, MIR212, MIR22, MIR22HG, MNT, OVCA2, PRPF8, RILP, RPA1, RTN4RL1, SCARF1, SERPINF1, SERPINF2, SGSM2, SLC43A2, SMG6, SMYD4, SNORD91A, SNORD91B, SRR, TLCD2, TSR1, WDR81
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)nssv15958586
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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