A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3604n152



Internal ID22819307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:57957705..57978247hg38UCSC Ensembl
chr17:56035066..56055608hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3820543
hg1920543
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3236276, nsv3245351
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known GenesVEZF1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv3604n152
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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