A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236984



Internal ID22373752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:72106457..72121967hg38UCSC Ensembl
Outerchr8:73018692..73034202hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg38677
hg19677
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9212n152
Supporting Variantsnssv14281010, nssv14281011
SamplesHG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236984
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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