A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15873572



Internal ID19598826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:214726966..214727028hg38UCSC Ensembl
chr2:215591690..215591752hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4519161
Supporting Variants
Samples
Known GenesBARD1
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)nssv15873572
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.043856


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