A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195891



Internal ID22345995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:214864037..214866107hg38UCSC Ensembl
chr2:215728761..215730831hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg382071
hg192071
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14295919, nssv14295918, nssv14295916, nssv14295917
SamplesHG00732, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195891
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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