A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4326321



Internal ID19838673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:26508516..26804975hg38UCSC Ensembl
chr1:26835007..27131466hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38296460
hg19296460
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15789147
Samples
Known GenesARID1A, MIR1976, PIGV, RPS6KA1
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)nsv4326321
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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