A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249149



Internal ID22377190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:43175954..43185280hg38UCSC Ensembl
chr6:43143692..43153018hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg389327
hg199327
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14326495, nssv14326497, nssv14326500, nssv14326499, nssv14326493, nssv14326492, nssv14326496, nssv14326494, nssv14326498
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCUL9, SRF
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249149
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