A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228261



Internal ID22370509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:39911775..39928397hg38UCSC Ensembl
Outerchr6:39879519..39896136hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38887
hg19887
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276521, nssv14276522, nssv14276517, nssv14276519, nssv14276520, nssv14276518
SamplesHG00512, NA19238, NA19239, HG00732, HG00733, HG00513
Known GenesMOCS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228261
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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