A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15873406



Internal ID19598660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:210292806..210298834hg38UCSC Ensembl
chr2:211157530..211163558hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg386029
hg196029
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4081105
Supporting Variants
Samples
Known GenesMYL1
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)nssv15873406
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000138


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