A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4345082



Internal ID19841479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225921280..226429579hg38UCSC Ensembl
chr1:226108980..226617280hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38508300
hg19508301
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15789086
Samples
Known GenesACBD3, H3F3A, H3F3AP4, LEFTY2, LIN9, MIR6741, MIXL1, PARP1, PYCR2, SDE2
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)nsv4345082
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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