A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4338323



Internal ID19840165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:69154137..71918750hg38UCSC Ensembl
chr15:69446476..72211091hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg382764614
hg192764616
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15788279
Samples
Known GenesCT62, GLCE, KIF23, LARP6, LINC00593, LOC145837, LRRC49, MIR548H4, MIR629, MYO9A, NR2E3, PAQR5, RPLP1, THAP10, THSD4, TLE3, UACA
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 ID12345678
Accession Number(s)nsv4338323
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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