A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4313694



Internal ID19837854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:226619501..227899802hg38UCSC Ensembl
chr2:227484217..228764518hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg381280302
hg191280302
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16091133
Samples
Known GenesAGFG1, C2orf83, CCL20, COL4A3, COL4A4, DAW1, IRS1, LOC654841, MFF, MIR5702, MIR5703, RHBDD1, SLC19A3, TM4SF20
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
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4313694
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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