A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214251



Internal ID22360954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:129402355..129431781hg38UCSC Ensembl
Outerchr8:130414601..130444027hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3829427
hg1929427
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281623, nssv14281624
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214251
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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