A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15958798



Internal ID19684052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30657630..30886901hg38UCSC Ensembl
chr17:28984648..29213919hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38229272
hg19229272
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4240493
Supporting Variants
Samples
Known GenesATAD5, CRLF3, SUZ12P1
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)nssv15958798
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000138


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