A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16075915



Internal ID20147871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:105096600..105096601hg38UCSC Ensembl
chr7:104737047..104737048hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg38787
hg19787
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4570480
Supporting Variants
Samples
Known GenesKMT2E
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)nssv16075915
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00498


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