A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3553061



Internal ID22421949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:175231430..175232801hg38UCSC Ensembl
chr1:175200566..175201937hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg381372
hg191372
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv469n152
Supporting Variantsnssv14296377, nssv14296375, nssv14296381, nssv14296376, nssv14296379, nssv14296382, nssv14296378, nssv14296380, nssv14296383
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3553061
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer