A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15975461



Internal ID20047401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:83467315..83499644hg38UCSC Ensembl
chr4:84388468..84420797hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg3832330
hg1932330
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4093739
Supporting Variants
Samples
Known GenesFAM175A
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)nssv15975461
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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