A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211928



Internal ID22359328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144596540..144627869hg38UCSC Ensembl
chr8:145821924..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 Variantsnssv14383299
SamplesNA19240
Known GenesARHGAP39
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211928
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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