A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230208



Internal ID22371799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:61056333..61063482hg38UCSC Ensembl
Outerchr3:61042005..61049154hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg385490
hg195490
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272073
SamplesHG00731
Known GenesFHIT
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230208
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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