A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3660n152



Internal ID22819363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:77610625..77648403hg38UCSC Ensembl
chr17:75606707..75644485hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3837779
hg1937779
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3243094, nsv3233909
SamplesHG00512, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv3660n152
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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