A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212171



Internal ID22359503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144596540..144627869hg38UCSC Ensembl
Outerchr8:145821924..145853254hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3831330
hg1931331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9443n152
Supporting Variantsnssv14282195
SamplesNA19240
Known GenesARHGAP39
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212171
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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