A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3553299



Internal ID22422183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127817517..127817597hg38UCSC Ensembl
chr8:128829763..128829843hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14345060, nssv14345058, nssv14345061, nssv14345059
SamplesHG00512, HG00732, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3553299
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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