A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15790197



Internal ID19862253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:56667928..56768417hg38UCSC Ensembl
chr4:57534094..57634583hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38100490
hg19100490
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4335600
Supporting Variants
Samples
Known GenesHOPX
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 ID32461652
Accession Number(s)nssv15790197
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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