A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220011



Internal ID22364847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:14393070..14403456hg38UCSC Ensembl
Outerchr3:14434570..14444964hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38391
hg19391
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5880n152
Supporting Variantsnssv14272079
SamplesHG00732
Known GenesSLC6A6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220011
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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