A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15973743



Internal ID19698997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:105648766..105777237hg38UCSC Ensembl
chr4:106569923..106698394hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg38128472
hg19128472
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4102208
Supporting Variants
Samples
Known GenesARHGEF38, GSTCD, INTS12
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)nssv15973743
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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