A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229897



Internal ID22371595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:11448494..11467745hg38UCSC Ensembl
Outerchr8:11306003..11325254hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38748
hg19748
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279199, nssv14279200, nssv14279202, nssv14279198, nssv14279201
SamplesHG00512, NA19238, HG00731, HG00732, HG00513
Known GenesFAM167A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229897
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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