A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240229



Internal ID22374645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:67548913..67563007hg38UCSC Ensembl
Outerchr8:68461148..68475242hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg382424
hg192424
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280654
SamplesHG00512
Known GenesCPA6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240229
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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