A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226268



Internal ID22369129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14621523..14623314hg38UCSC Ensembl
chr19:14732335..14734126hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg381792
hg191792
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14286127, nssv14286126, nssv14286132, nssv14286130, nssv14286129, nssv14286131, nssv14286128, nssv14286125
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesEMR3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226268
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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