A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4345637



Internal ID19841592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:88317253..88439036hg38UCSC Ensembl
chr9:90932168..91053951hg19UCSC Ensembl
Cytoband9q22.1
Allele length
AssemblyAllele length
hg38121784
hg19121784
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15791625
Samples
Known GenesSPIN1
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)nsv4345637
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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