A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15834248



Internal ID19559648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:12700579..12700742hg38UCSC Ensembl
chr17:12603896..12604059hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38164
hg19164
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4234509
Supporting Variants
Samples
Known GenesLOC101928418, MYOCD
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)nssv15834248
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.003965


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