A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230854



Internal ID22372047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86056323..86095876hg38UCSC Ensembl
chr2:86283446..86322999hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3839554
hg1939554
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14293928, nssv14293927
SamplesHG00512, HG00514
Known GenesPOLR1A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230854
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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