A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213151



Internal ID22360185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:11699718..11717613hg38UCSC Ensembl
Outerchr8:11557227..11575122hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3817896
hg1917896
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280879
SamplesNA19238
Known GenesGATA4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213151
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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