A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228458



Internal ID22370633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30488172..30490607hg38UCSC Ensembl
chr8:30345688..30348123hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg382436
hg192436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14340399
SamplesNA19238
Known GenesRBPMS
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228458
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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