A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219882



Internal ID22364756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:21765511..21771265hg38UCSC Ensembl
Outerchr8:21623023..21628777hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg382514
hg192514
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279730, nssv14279734, nssv14279727, nssv14279731, nssv14279728, nssv14279729, nssv14279732, nssv14279733, nssv14279735
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesGFRA2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219882
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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