A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223518



Internal ID22367262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:71848266..71981556hg38UCSC Ensembl
chr14:72314983..72448273hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38133291
hg19133291
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14371189, nssv14371187, nssv14371188
SamplesHG00731, HG00732, HG00733
Known GenesRGS6
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223518
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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