A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4322948



Internal ID19838441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:26364236..26410463hg38UCSC Ensembl
chr1:26690727..26736954hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3846228
hg1946228
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15789146
Samples
Known GenesZNF683
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)nsv4322948
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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