A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196275



Internal ID22346315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:126883401..126888500hg38UCSC Ensembl
chr2:127640977..127646076hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg385100
hg195100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14294526, nssv14294518, nssv14294521, nssv14294519, nssv14294524, nssv14294522, nssv14294525, nssv14294523, nssv14294520
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)nsv3196275
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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