A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558552



Internal ID22427355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:170241752..170242512hg38UCSC Ensembl
chr3:169959540..169960300hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38761
hg19761
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14310575, nssv14310579, nssv14310578, nssv14310574, nssv14310581, nssv14310580, nssv14310576, nssv14310577
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00514
Known GenesPRKCI
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3558552
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