A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217025



Internal ID22362823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:25688910..25704409hg38UCSC Ensembl
Outerchr20:25669546..25685045hg19UCSC Ensembl
Cytoband20p11.1
Allele length
AssemblyAllele length
hg3815500
hg1915500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266646
SamplesNA19238
Known GenesZNF337
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217025
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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