A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221230



Internal ID22365685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:79525843..79534007hg38UCSC Ensembl
Outerchr3:79574993..79583157hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38767
hg19767
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272146, nssv14272148, nssv14272149, nssv14272147, nssv14272150
SamplesHG00512, NA19238, HG00731, NA19240, HG00513
Known GenesROBO1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221230
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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