A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4332914



Internal ID19839170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:105187311..105483396hg38UCSC Ensembl
chr7:104827758..105123843hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg38296086
hg19296086
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15791179
Samples
Known GenesPUS7, SRPK2
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4332914
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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