A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249139



Internal ID22377186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:64465056..64482966hg38UCSC Ensembl
chr5:63760883..63778793hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg3817911
hg1917911
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14454065, nssv14454369, nssv14462909, nssv14464371, nssv14465420, nssv14461392
SamplesHG00512, NA19239, HG00731, HG00732, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249139
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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