A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219671



Internal ID22364621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:77286845..77324559hg38UCSC Ensembl
Outerchr3:77335996..77373710hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg381754
hg191754
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6030n152
Supporting Variantsnssv14272502, nssv14272501
SamplesHG00512, HG00731
Known GenesROBO2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219671
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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