A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194041



Internal ID22344412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:41467751..41473400hg38UCSC Ensembl
chr6:41435489..41441138hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg385650
hg195650
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7869n152
Supporting Variantsnssv14326422, nssv14326416, nssv14326417, nssv14326423, nssv14326415, nssv14326418, nssv14326420, nssv14326421, nssv14326419
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)nsv3194041
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