A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15873514



Internal ID19945454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:212173661..212178344hg38UCSC Ensembl
chr2:213038386..213043069hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg384684
hg194684
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4091583
Supporting Variants
Samples
Known GenesERBB4
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)nssv15873514
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000784


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