A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217647



Internal ID22363237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:107484180..107510434hg38UCSC Ensembl
Outerchr8:108496408..108522662hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg3826255
hg1926255
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279102
SamplesHG00732
Known GenesANGPT1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217647
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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