A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15976031



Internal ID20047971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:174518961..174525998hg38UCSC Ensembl
chr4:175440112..175447149hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg387038
hg197038
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4102086
Supporting Variants
Samples
Known GenesHPGD
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)nssv15976031
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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