A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209248



Internal ID22357355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89273153..89273231hg38UCSC Ensembl
chr1:89738836..89738914hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14383829
SamplesHG00732
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209248
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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