A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15979436



Internal ID19704690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:136766964..136829570hg38UCSC Ensembl
chr6:137088102..137150708hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg3862607
hg1962607
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4152255
Supporting Variants
Samples
Known GenesMAP3K5, PEX7
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)nssv15979436
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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