A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3177n152



Internal ID22818880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:22843730..22848169hg38UCSC Ensembl
chr16:22855051..22859490hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg384440
hg194440
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3219904, nsv3214535
SamplesNA19240
Known GenesHS3ST2
MethodMerging
Optical mapping
AnalysisBioNano Genomics proprietary analysis
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformBioNano Genomics
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv3177n152
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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