A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4263n152



Internal ID22819966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38758851..38799961hg38UCSC Ensembl
chr19:39249491..39290601hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3841111
hg1941111
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3234976, nsv3233670
SamplesHG00731, HG00732
Known GenesLGALS7, LGALS7B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv4263n152
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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