A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4335997



Internal ID19839717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:245013207..246483027hg38UCSC Ensembl
chr1:245176509..246646329hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381469821
hg191469821
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15789130
Samples
Known GenesEFCAB2, KIF26B, SMYD3
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)nsv4335997
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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