A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228761



Internal ID22370840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:178314701..178321590hg38UCSC Ensembl
Outerchr2:179179428..179186317hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg383890
hg193890
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266003
SamplesNA19239
Known GenesOSBPL6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228761
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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