A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15907679



Internal ID19632933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2867006..2905373hg38UCSC Ensembl
chr6:2867240..2905607hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg3838368
hg1938368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4116994
Supporting Variants
Samples
Known GenesMGC39372, SERPINB9
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)nssv15907679
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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