A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4340017



Internal ID19840533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:169827296..170178290hg38UCSC Ensembl
chr3:169545084..169896078hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38350995
hg19350995
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15789956
Samples
Known GenesGPR160, LOC100128164, LRRC31, LRRIQ4, PHC3, SAMD7, SEC62
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)nsv4340017
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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