A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218096



Internal ID22363557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8250884..8305317hg38UCSC Ensembl
Outerchr19:8315768..8370201hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3854434
hg1954434
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261964, nssv14261962, nssv14261960, nssv14261968, nssv14261965, nssv14261966, nssv14261963, nssv14261967, nssv14261961
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCD320, CERS4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218096
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