A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15917009



Internal ID19988949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:12616232..12617375hg38UCSC Ensembl
chr7:12655857..12657000hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg381144
hg191144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4138292
Supporting Variants
Samples
Known GenesSCIN
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)nssv15917009
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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