A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229793



Internal ID22371524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:214831082..214887208hg38UCSC Ensembl
Outerchr1:215004425..215060551hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381308
hg191308
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv547n152
Supporting Variantsnssv14264538, nssv14264542, nssv14264536, nssv14264537, nssv14264541, nssv14264539, nssv14264540
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229793
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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