A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221530



Internal ID22365888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:97845177..97858354hg38UCSC Ensembl
Outerchr8:98857405..98870582hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3813178
hg1913178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282193
SamplesNA19240
Known GenesLAPTM4B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221530
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