A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15967821



Internal ID19693075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26302641..26723694hg38UCSC Ensembl
chr2:26525509..26946562hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38421054
hg19421054
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4054302
Supporting Variants
Samples
Known GenesC2orf70, CIB4, DRC1, EPT1, GPR113, KCNK3, OTOF
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)nssv15967821
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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