A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15891130



Internal ID19963070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:57127431..57129602hg38UCSC Ensembl
chr4:57993597..57995768hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg382172
hg192172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4092733
Supporting Variants
Samples
Known GenesIGFBP7-AS1
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)nssv15891130
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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