A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15834771



Internal ID19906857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:15247424..15252266hg38UCSC Ensembl
chr17:15150741..15155583hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg384843
hg194843
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4234968
Supporting Variants
Samples
Known GenesMIR4731, PMP22
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)nssv15834771
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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