A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15980417



Internal ID20052357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:26359880..26653331hg38UCSC Ensembl
chr7:26399500..26692950hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg38293452
hg19293451
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4140696
Supporting Variants
Samples
Known GenesC7orf71, KIAA0087, LOC441204, SNX10
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)nssv15980417
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000184


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