A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272145



Internal ID22266208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:77296917..77324559hg38UCSC Ensembl
Outerchr3:77346068..77373710hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38868
hg19868
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221171
Supporting Variants
SamplesNA19238
Known GenesROBO2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272145
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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