A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15915744



Internal ID19640998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:132773181..132773300hg38UCSC Ensembl
chr6:133094320..133094439hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4147388
Supporting Variants
Samples
Known GenesSLC18B1
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)nssv15915744
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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