A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3550609



Internal ID22419530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:12430507..12433398hg38UCSC Ensembl
chr6:12430739..12433630hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg382892
hg192892
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14465881, nssv14457436, nssv14466446, nssv14456431, nssv14465948
SamplesHG00512, NA19239, HG00732, NA19240, HG00513
Known Genes
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3550609
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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