A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5880n152



Internal ID22821583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:14391296..14403456hg38UCSC Ensembl
chr3:14432796..14444964hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg3812161
hg1912169
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3229939, nsv3220011
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesSLC6A6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv5880n152
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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