A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16035754



Internal ID19761008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27511403..27511404hg38UCSC Ensembl
chr2:27734270..27734271hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381302
hg191302
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4562550
Supporting Variants
Samples
Known GenesGCKR
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)nssv16035754
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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